GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000445851.4
Allele description [Variation Report for GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3]
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3
- Genes:
- KDSR:3-ketodihydrosphingosine reductase [Gene - OMIM - HGNC]
- AKAIN1:A-kinase anchor inhibitor 1 [Gene - OMIM - HGNC]
- ADNP2:ADNP homeobox 2 [Gene - OMIM - HGNC]
- AFG3L2:AFG3 like matrix AAA peptidase subunit 2 [Gene - OMIM - HGNC]
- APCDD1:APC down-regulated 1 [Gene - OMIM - HGNC]
- ASXL3:ASXL transcriptional regulator 3 [Gene - OMIM - HGNC]
- ATP5F1A:ATP synthase F1 subunit alpha [Gene - OMIM - HGNC]
- ATP8B1:ATPase phospholipid transporting 8B1 [Gene - OMIM - HGNC]
- ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]
- BCL2:BCL2 apoptosis regulator [Gene - OMIM - HGNC]
- CD226:CD226 molecule [Gene - OMIM - HGNC]
- CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
- CELF4:CUGBP Elav-like family member 4 [Gene - OMIM - HGNC]
- CXXC1:CXXC finger protein 1 [Gene - OMIM - HGNC]
- CABLES1:Cdk5 and Abl enzyme substrate 1 [Gene - OMIM - HGNC]
- DCC:DCC netrin 1 receptor [Gene - OMIM - HGNC]
- DLGAP1:DLG associated protein 1 [Gene - OMIM - HGNC]
- DLGAP1-AS2:DLGAP1 antisense RNA 2 [Gene - HGNC]
- POLI:DNA polymerase iota [Gene - OMIM - HGNC]
- FBXO15:F-box protein 15 [Gene - OMIM - HGNC]
- GNAL:G protein subunit alpha L [Gene - OMIM - HGNC]
- GATA6:GATA binding protein 6 [Gene - OMIM - HGNC]
- GAREM1:GRB2 associated regulator of MAPK1 subtype 1 [Gene - OMIM - HGNC]
- GREB1L:GREB1 like retinoic acid receptor coactivator [Gene - OMIM - HGNC]
- HAUS1:HAUS augmin like complex subunit 1 [Gene - OMIM - HGNC]
- INO80C:INO80 complex subunit C [Gene - HGNC]
- KIAA1328:KIAA1328 [Gene - OMIM - HGNC]
- L3MBTL4:L3MBTL histone methyl-lysine binding protein 4 [Gene - OMIM - HGNC]
- MALT1:MALT1 paracaspase [Gene - OMIM - HGNC]
- MIB1:MIB E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
- NDUFV2:NADH:ubiquinone oxidoreductase core subunit V2 [Gene - OMIM - HGNC]
- NDC80:NDC80 kinetochore complex component [Gene - OMIM - HGNC]
- NEDD4L:NEDD4 like E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
- NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]
- NAPG:NSF attachment protein gamma [Gene - OMIM - HGNC]
- PHLPP1:PH domain and leucine rich repeat protein phosphatase 1 [Gene - OMIM - HGNC]
- POTEC:POTE ankyrin domain family member C [Gene - HGNC]
- PRELID3A:PRELI domain containing 3A [Gene - OMIM - HGNC]
- RELCH:RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing [Gene - OMIM - HGNC]
- RAB12:RAB12, member RAS oncogene family [Gene - OMIM - HGNC]
- RAB27B:RAB27B, member RAS oncogene family [Gene - OMIM - HGNC]
- RAB31:RAB31, member RAS oncogene family [Gene - OMIM - HGNC]
- RBBP8:RB binding protein 8, endonuclease [Gene - OMIM - HGNC]
- RIOK3:RIO kinase 3 [Gene - OMIM - HGNC]
- RNMT:RNA guanine-7 methyltransferase [Gene - OMIM - HGNC]
- RPL17-C18orf32:RPL17-C18orf32 readthrough [Gene - HGNC]
- RIT2:Ras like without CAAX 2 [Gene - OMIM - HGNC]
- ARHGAP28:Rho GTPase activating protein 28 [Gene - OMIM - HGNC]
- ROCK1:Rho associated coiled-coil containing protein kinase 1 [Gene - OMIM - HGNC]
- SEC11C:SEC11 homolog C, signal peptidase complex subunit [Gene - HGNC]
- SEH1L:SEH1 like nucleoporin [Gene - OMIM - HGNC]
- SETBP1:SET binding protein 1 [Gene - OMIM - HGNC]
- SKOR2:SKI family transcriptional corepressor 2 [Gene - OMIM - HGNC]
- SMAD2:SMAD family member 2 [Gene - OMIM - HGNC]
- SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
- SMAD7:SMAD family member 7 [Gene - OMIM - HGNC]
- SS18:SS18 subunit of BAF chromatin remodeling complex [Gene - OMIM - HGNC]
- ST8SIA3:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 [Gene - OMIM - HGNC]
- ST8SIA5:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 [Gene - OMIM - HGNC]
- STARD6:StAR related lipid transfer domain containing 6 [Gene - OMIM - HGNC]
- TAF4B:TATA-box binding protein associated factor 4b [Gene - OMIM - HGNC]
- TGIF1:TGFB induced factor homeobox 1 [Gene - OMIM - HGNC]
- THOC1:THO complex subunit 1 [Gene - OMIM - HGNC]
- TNFRSF11A:TNF receptor superfamily member 11a [Gene - OMIM - HGNC]
- TYMSOS:TYMS opposite strand RNA [Gene - HGNC]
- VAPA:VAMP associated protein A [Gene - OMIM - HGNC]
- WDR7:WD repeat domain 7 [Gene - OMIM - HGNC]
- YES1:YES proto-oncogene 1, Src family tyrosine kinase [Gene - OMIM - HGNC]
- ABHD3:abhydrolase domain containing 3, phospholipase [Gene - OMIM - HGNC]
- ACAA2:acetyl-CoA acyltransferase 2 [Gene - OMIM - HGNC]
- ADCYAP1:adenylate cyclase activating polypeptide 1 [Gene - OMIM - HGNC]
- ALPK2:alpha kinase 2 [Gene - OMIM - HGNC]
- ANKRD12:ankyrin repeat domain 12 [Gene - OMIM - HGNC]
- ANKRD29:ankyrin repeat domain 29 [Gene - HGNC]
- ANKRD30B:ankyrin repeat domain 30B [Gene - OMIM - HGNC]
- ANKRD62:ankyrin repeat domain 62 [Gene - HGNC]
- AQP4:aquaporin 4 [Gene - OMIM - HGNC]
- ARK2C:arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C [Gene - HGNC]
- ARK2N:arkadia (RNF111) N-terminal like PKA signaling regulator 2N [Gene - HGNC]
- NARS1:asparaginyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
- B4GALT6:beta-1,4-galactosyltransferase 6 [Gene - OMIM - HGNC]
- BOD1L2:biorientation of chromosomes in cell division 1 like 2 [Gene - HGNC]
- CDH19:cadherin 19 [Gene - OMIM - HGNC]
- CDH20:cadherin 20 [Gene - OMIM - HGNC]
- CDH2:cadherin 2 [Gene - OMIM - HGNC]
- CDH7:cadherin 7 [Gene - OMIM - HGNC]
- CABYR:calcium binding tyrosine phosphorylation regulated [Gene - OMIM - HGNC]
- CTIF:cap binding complex dependent translation initiation factor [Gene - OMIM - HGNC]
- CHST9:carbohydrate sulfotransferase 9 [Gene - OMIM - HGNC]
- CNDP1:carnosine dipeptidase 1 [Gene - OMIM - HGNC]
- CNDP2:carnosine dipeptidase 2 [Gene - OMIM - HGNC]
- CIDEA:cell death inducing DFFA like effector a [Gene - OMIM - HGNC]
- CETN1:centrin 1 [Gene - OMIM - HGNC]
- CEP192:centrosomal protein 192 [Gene - OMIM - HGNC]
- CEP76:centrosomal protein 76 [Gene - OMIM - HGNC]
- CBLN2:cerebellin 2 precursor [Gene - OMIM - HGNC]
- CHMP1B:charged multivesicular body protein 1B [Gene - OMIM - HGNC]
- C18orf21:chromosome 18 open reading frame 21 [Gene - HGNC]
- C18orf32:chromosome 18 open reading frame 32 [Gene - OMIM - HGNC]
- C18orf54:chromosome 18 open reading frame 54 [Gene - OMIM - HGNC]
- C18orf63:chromosome 18 open reading frame 63 [Gene - HGNC]
- CFAP53:cilia and flagella associated protein 53 [Gene - OMIM - HGNC]
- CLUL1:clusterin like 1 [Gene - OMIM - HGNC]
- CCDC102B:coiled-coil domain containing 102B [Gene - HGNC]
- CCDC178:coiled-coil domain containing 178 [Gene - HGNC]
- CCDC68:coiled-coil domain containing 68 [Gene - OMIM - HGNC]
- CCBE1:collagen and calcium binding EGF domains 1 [Gene - OMIM - HGNC]
- COLEC12:collectin subfamily member 12 [Gene - OMIM - HGNC]
- CPLX4:complexin 4 [Gene - OMIM - HGNC]
- CTAGE1:cutaneous T cell lymphoma-associated antigen 1 [Gene - OMIM - HGNC]
- CYB5A:cytochrome b5 type A [Gene - OMIM - HGNC]
- DSEL:dermatan sulfate epimerase like [Gene - OMIM - HGNC]
- DSC1:desmocollin 1 [Gene - OMIM - HGNC]
- DSC2:desmocollin 2 [Gene - OMIM - HGNC]
- DSC3:desmocollin 3 [Gene - OMIM - HGNC]
- DSG1:desmoglein 1 [Gene - OMIM - HGNC]
- DSG2:desmoglein 2 [Gene - OMIM - HGNC]
- DSG3:desmoglein 3 [Gene - OMIM - HGNC]
- DSG4:desmoglein 4 [Gene - OMIM - HGNC]
- DIPK1C:divergent protein kinase domain 1C [Gene - OMIM - HGNC]
- DOK6:docking protein 6 [Gene - OMIM - HGNC]
- DYM:dymeclin [Gene - OMIM - HGNC]
- DYNAP:dynactin associated protein [Gene - OMIM - HGNC]
- DTNA:dystrobrevin alpha [Gene - OMIM - HGNC]
- EPG5:ectopic P-granules 5 autophagy tethering factor [Gene - OMIM - HGNC]
- ELAC1:elaC ribonuclease Z 1 [Gene - OMIM - HGNC]
- EMILIN2:elastin microfibril interfacer 2 [Gene - OMIM - HGNC]
- ELP2:elongator acetyltransferase complex subunit 2 [Gene - OMIM - HGNC]
- ELOA2:elongin A2 [Gene - OMIM - HGNC]
- ENOSF1:enolase superfamily member 1 [Gene - OMIM - HGNC]
- EPB41L3:erythrocyte membrane protein band 4.1 like 3 [Gene - OMIM - HGNC]
- ESCO1:establishment of sister chromatid cohesion N-acetyltransferase 1 [Gene - OMIM - HGNC]
- FAM210A:family with sequence similarity 210 member A [Gene - OMIM - HGNC]
- FECH:ferrochelatase [Gene - OMIM - HGNC]
- FHOD3:formin homology 2 domain containing 3 [Gene - OMIM - HGNC]
- GALR1:galanin receptor 1 [Gene - OMIM - HGNC]
- GRP:gastrin releasing peptide [Gene - OMIM - HGNC]
- HDHD2:haloacid dehalogenase like hydrolase domain containing 2 [Gene - HGNC]
- HSBP1L1:heat shock factor binding protein 1 like 1 [Gene - HGNC]
- HRH4:histamine receptor H4 [Gene - OMIM - HGNC]
- HMSD:histocompatibility minor serpin domain containing [Gene - OMIM - HGNC]
- IER3IP1:immediate early response 3 interacting protein 1 [Gene - OMIM - HGNC]
- IMPACT:impact RWD domain protein [Gene - OMIM - HGNC]
- IMPA2:inositol monophosphatase 2 [Gene - OMIM - HGNC]
- KATNAL2:katanin catalytic subunit A1 like 2 [Gene - OMIM - HGNC]
- KLHL14:kelch like family member 14 [Gene - OMIM - HGNC]
- LAMA1:laminin subunit alpha 1 [Gene - OMIM - HGNC]
- LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]
- LMAN1:lectin, mannose binding 1 [Gene - OMIM - HGNC]
- LRRC30:leucine rich repeat containing 30 [Gene - HGNC]
- LIPG:lipase G, endothelial type [Gene - OMIM - HGNC]
- LPIN2:lipin 2 [Gene - OMIM - HGNC]
- LOXHD1:lipoxygenase homology PLAT domains 1 [Gene - OMIM - HGNC]
- LINC01415:long intergenic non-protein coding RNA 1415 [Gene - HGNC]
- LINC01879:long intergenic non-protein coding RNA 1879 [Gene - HGNC]
- LINC00683:long intergenic non-protein coding RNA 683 [Gene - HGNC]
- LINC-ROR:long intergenic non-protein coding RNA, regulator of reprogramming [Gene - OMIM - HGNC]
- LDLRAD4:low density lipoprotein receptor class A domain containing 4 [Gene - OMIM - HGNC]
- MRO:maestro [Gene - OMIM - HGNC]
- ME2:malic enzyme 2 [Gene - OMIM - HGNC]
- MC2R:melanocortin 2 receptor [Gene - OMIM - HGNC]
- MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
- MC5R:melanocortin 5 receptor [Gene - OMIM - HGNC]
- MEP1B:meprin A subunit beta [Gene - OMIM - HGNC]
- MPPE1:metallophosphoesterase 1 [Gene - OMIM - HGNC]
- MBD1:methyl-CpG binding domain protein 1 [Gene - OMIM - HGNC]
- MBD2:methyl-CpG binding domain protein 2 [Gene - OMIM - HGNC]
- METTL4:methyltransferase 4, N6-adenosine [Gene - OMIM - HGNC]
- MEX3C:mex-3 RNA binding family member C [Gene - OMIM - HGNC]
- MIR1-2:microRNA 1-2 [Gene - OMIM - HGNC]
- MIR122:microRNA 122 [Gene - OMIM - HGNC]
- MIR133A1:microRNA 133a-1 [Gene - OMIM - HGNC]
- MIR187:microRNA 187 [Gene - OMIM - HGNC]
- MAPRE2:microtubule associated protein RP/EB family member 2 [Gene - OMIM - HGNC]
- MTCL1:microtubule crosslinking factor 1 [Gene - OMIM - HGNC]
- MAPK4:mitogen-activated protein kinase 4 [Gene - OMIM - HGNC]
- MOCOS:molybdenum cofactor sulfurase [Gene - OMIM - HGNC]
- MBP:myelin basic protein [Gene - OMIM - HGNC]
- MYOM1:myomesin 1 [Gene - OMIM - HGNC]
- MYO5B:myosin VB [Gene - OMIM - HGNC]
- MYL12A:myosin light chain 12A [Gene - HGNC]
- MYL12B:myosin light chain 12B [Gene - OMIM - HGNC]
- NETO1:neuropilin and tolloid like 1 [Gene - OMIM - HGNC]
- NFATC1:nuclear factor of activated T cells 1 [Gene - OMIM - HGNC]
- NOL4:nucleolar protein 4 [Gene - OMIM - HGNC]
- ONECUT2:one cut homeobox 2 [Gene - OMIM - HGNC]
- OSBPL1A:oxysterol binding protein like 1A [Gene - OMIM - HGNC]
- PARD6G:par-6 family cell polarity regulator gamma [Gene - OMIM - HGNC]
- PMAIP1:phorbol-12-myristate-13-acetate-induced protein 1 [Gene - OMIM - HGNC]
- PIK3C3:phosphatidylinositol 3-kinase catalytic subunit type 3 [Gene - OMIM - HGNC]
- PIGN:phosphatidylinositol glycan anchor biosynthesis class N [Gene - OMIM - HGNC]
- PIEZO2:piezo type mechanosensitive ion channel component 2 [Gene - OMIM - HGNC]
- GALNT1:polypeptide N-acetylgalactosaminyltransferase 1 [Gene - OMIM - HGNC]
- KCTD1:potassium channel tetramerization domain containing 1 [Gene - OMIM - HGNC]
- KCNG2:potassium voltage-gated channel modifier subfamily G member 2 [Gene - OMIM - HGNC]
- PSTPIP2:proline-serine-threonine phosphatase interacting protein 2 [Gene - OMIM - HGNC]
- PTGR3:prostaglandin reductase 3 [Gene - OMIM - HGNC]
- PSMA8:proteasome 20S subunit alpha 8 [Gene - OMIM - HGNC]
- PSMG2:proteasome assembly chaperone 2 [Gene - OMIM - HGNC]
- PIAS2:protein inhibitor of activated STAT 2 [Gene - OMIM - HGNC]
- PPP4R1:protein phosphatase 4 regulatory subunit 1 [Gene - OMIM - HGNC]
- PTPN2:protein tyrosine phosphatase non-receptor type 2 [Gene - OMIM - HGNC]
- PTPRM:protein tyrosine phosphatase receptor type M [Gene - OMIM - HGNC]
- RALBP1:ralA binding protein 1 [Gene - OMIM - HGNC]
- RPRD1A:regulation of nuclear pre-mRNA domain containing 1A [Gene - OMIM - HGNC]
- RMC1:regulator of MON1-CCZ1 [Gene - OMIM - HGNC]
- RAX:retina and anterior neural fold homeobox [Gene - OMIM - HGNC]
- RPL17:ribosomal protein L17 [Gene - OMIM - HGNC]
- RBFA:ribosome binding factor A [Gene - OMIM - HGNC]
- RNF125:ring finger protein 125 [Gene - OMIM - HGNC]
- RNF138:ring finger protein 138 [Gene - OMIM - HGNC]
- RNF152:ring finger protein 152 [Gene - OMIM - HGNC]
- RTTN:rotatin [Gene - OMIM - HGNC]
- SERPINB10:serpin family B member 10 [Gene - OMIM - HGNC]
- SERPINB11:serpin family B member 11 [Gene - OMIM - HGNC]
- SERPINB12:serpin family B member 12 [Gene - OMIM - HGNC]
- SERPINB13:serpin family B member 13 [Gene - OMIM - HGNC]
- SERPINB2:serpin family B member 2 [Gene - OMIM - HGNC]
- SERPINB3:serpin family B member 3 [Gene - OMIM - HGNC]
- SERPINB4:serpin family B member 4 [Gene - OMIM - HGNC]
- SERPINB5:serpin family B member 5 [Gene - OMIM - HGNC]
- SERPINB7:serpin family B member 7 [Gene - OMIM - HGNC]
- SERPINB8:serpin family B member 8 [Gene - OMIM - HGNC]
- SIGLEC15:sialic acid binding Ig like lectin 15 [Gene - OMIM - HGNC]
- SMIM21:small integral membrane protein 21 [Gene - HGNC]
- SNRPD1:small nuclear ribonucleoprotein D1 polypeptide [Gene - OMIM - HGNC]
- SLC14A1:solute carrier family 14 member 1 (Kidd blood group) [Gene - OMIM - HGNC]
- SLC14A2:solute carrier family 14 member 2 [Gene - OMIM - HGNC]
- SLC25A52:solute carrier family 25 member 52 [Gene - OMIM - HGNC]
- SLC35G4:solute carrier family 35 member G4 [Gene - HGNC]
- SLC39A6:solute carrier family 39 member 6 [Gene - OMIM - HGNC]
- SLC66A2:solute carrier family 66 member 2 [Gene - HGNC]
- SALL3:spalt like transcription factor 3 [Gene - OMIM - HGNC]
- SKA1:spindle and kinetochore associated complex subunit 1 [Gene - OMIM - HGNC]
- SPIRE1:spire type actin nucleation factor 1 [Gene - OMIM - HGNC]
- SMCHD1:structural maintenance of chromosomes flexible hinge domain containing 1 [Gene - OMIM - HGNC]
- SOCS6:suppressor of cytokine signaling 6 [Gene - OMIM - HGNC]
- SYT4:synaptotagmin 4 [Gene - OMIM - HGNC]
- TSHZ1:teashirt zinc finger homeobox 1 [Gene - OMIM - HGNC]
- TTC39C:tetratricopeptide repeat domain 39C [Gene - HGNC]
- TXNDC2:thioredoxin domain containing 2 [Gene - OMIM - HGNC]
- TXNL1:thioredoxin like 1 [Gene - OMIM - HGNC]
- TXNL4A:thioredoxin like 4A [Gene - OMIM - HGNC]
- TMX3:thioredoxin related transmembrane protein 3 [Gene - OMIM - HGNC]
- TYMS:thymidylate synthetase [Gene - OMIM - HGNC]
- TRAPPC8:trafficking protein particle complex subunit 8 [Gene - OMIM - HGNC]
- TCF4:transcription factor 4 [Gene - OMIM - HGNC]
- TIMM21:translocase of inner mitochondrial membrane 21 [Gene - OMIM - HGNC]
- TMEM200C:transmembrane protein 200C [Gene - HGNC]
- TMEM241:transmembrane protein 241 [Gene - OMIM - HGNC]
- TTR:transthyretin [Gene - OMIM - HGNC]
- TUBB6:tubulin beta 6 class V [Gene - OMIM - HGNC]
- TPGS2:tubulin polyglutamylase complex subunit 2 [Gene - OMIM - HGNC]
- TWSG1:twisted gastrulation BMP signaling modulator 1 [Gene - OMIM - HGNC]
- USP14:ubiquitin specific peptidase 14 [Gene - OMIM - HGNC]
- VPS4B:vacuolar protein sorting 4 homolog B [Gene - OMIM - HGNC]
- ZCCHC2:zinc finger CCHC-type containing 2 [Gene - OMIM - HGNC]
- ZBTB14:zinc finger and BTB domain containing 14 [Gene - OMIM - HGNC]
- ZBTB7C:zinc finger and BTB domain containing 7C [Gene - OMIM - HGNC]
- ZSCAN30:zinc finger and SCAN domain containing 30 [Gene - HGNC]
- ZNF236:zinc finger protein 236 [Gene - OMIM - HGNC]
- ZNF24:zinc finger protein 24 [Gene - OMIM - HGNC]
- ZNF396:zinc finger protein 396 [Gene - OMIM - HGNC]
- ZNF397:zinc finger protein 397 [Gene - OMIM - HGNC]
- ZNF407:zinc finger protein 407 [Gene - OMIM - HGNC]
- ZNF516:zinc finger protein 516 [Gene - OMIM - HGNC]
- ZNF519:zinc finger protein 519 [Gene - HGNC]
- ZNF521:zinc finger protein 521 [Gene - OMIM - HGNC]
- ZNF532:zinc finger protein 532 [Gene - OMIM - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- 18p11.32-q23
- Genomic location:
- Chr18: 163323 - 78005185 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3
- HGVS:
- This HGVS expression did not pass validation
- Links:
- dbVar: nssv13645643; dbVar: nssv13649009; dbVar: nssv13649296; dbVar: nssv13655735; dbVar: nsv2777872
- Observations:
- 4
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
-
Mus musculus TRAF-interacting protein with forkhead-associated domain, family me...
Mus musculus TRAF-interacting protein with forkhead-associated domain, family member B, mRNA (cDNA clone MGC:32345 IMAGE:5029696), complete cdsgi|22268013|gb|BC027057.1|Nucleotide
-
Mus musculus 232000009843767 genomic scaffold, whole genome shotgun sequence
Mus musculus 232000009843767 genomic scaffold, whole genome shotgun sequencegi|70980434|gb|CH466546.1||gnl|WGS: 232000009843767Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000500929 | ISCA Site 6
| no assertion criteria provided | Pathogenic | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not provided | yes | 4 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.
Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.
PubMed [citation]
- PMID:
- 20466091
- PMCID:
- PMC2869000
Details of each submission
From ISCA Site 6, SCV000500929.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
2 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
3 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
4 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
2 | unknown | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
3 | unknown | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
4 | unknown | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided |
Last Updated: May 7, 2024