ClinVar

GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1

Genes:

• ABR:ABR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
• CRK:CRK proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
• EMC6:ER membrane protein complex subunit 6 [Gene - OMIM - HGNC]
• HIC1:HIC ZBTB transcriptional repressor 1 [Gene - OMIM - HGNC]
• MNT:MAX network transcriptional repressor [Gene - OMIM - HGNC]
• OVCA2:OVCA2 serine hydrolase domain containing [Gene - OMIM - HGNC]
• RAP1GAP2:RAP1 GTPase activating protein 2 [Gene - OMIM - HGNC]
• RILP:Rab interacting lysosomal protein [Gene - OMIM - HGNC]
• SMYD4:SET and MYND domain containing 4 [Gene - OMIM - HGNC]
• SMG6:SMG6 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
• TLCD2:TLC domain containing 2 [Gene - HGNC]
• TLCD3A:TLC domain containing 3A [Gene - OMIM - HGNC]
• TSR1:TSR1 ribosome maturation factor [Gene - OMIM - HGNC]
• TAX1BP3:Tax1 binding protein 3 [Gene - OMIM - HGNC]
• VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]
• WDR81:WD repeat domain 81 [Gene - OMIM - HGNC]
• ASPA:aspartoacylase [Gene - OMIM - HGNC]
• BHLHA9:basic helix-loop-helix family member a9 [Gene - OMIM - HGNC]
• CAMKK1:calcium/calmodulin dependent protein kinase kinase 1 [Gene - OMIM - HGNC]
• CLUH:clustered mitochondria homolog [Gene - OMIM - HGNC]
• CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
• DPH1:diphthamide biosynthesis 1 [Gene - OMIM - HGNC]
• DOC2B:double C2 domain beta [Gene - OMIM - HGNC]
• GEMIN4:gem nuclear organelle associated protein 4 [Gene - OMIM - HGNC]
• GLOD4:glyoxalase domain containing 4 [Gene - HGNC]
• HASPIN:histone H3 associated protein kinase [Gene - OMIM - HGNC]
• INPP5K:inositol polyphosphate-5-phosphatase K [Gene - OMIM - HGNC]
• ITGAE:integrin subunit alpha E [Gene - OMIM - HGNC]
• LIAT1:ligand of ATE1 [Gene - HGNC]
• METTL16:methyltransferase 16, RNA N6-adenosine [Gene - HGNC]
• MIR132:microRNA 132 [Gene - OMIM - HGNC]
• MIR212:microRNA 212 [Gene - OMIM - HGNC]
• MIR22:microRNA 22 [Gene - OMIM - HGNC]
• MRM3:mitochondrial rRNA methyltransferase 3 [Gene - OMIM - HGNC]
• MYO1C:myosin IC [Gene - OMIM - HGNC]
• NCBP3:nuclear cap binding subunit 3 [Gene - OMIM - HGNC]
• NXN:nucleoredoxin [Gene - OMIM - HGNC]
• OR1A1:olfactory receptor family 1 subfamily A member 1 [Gene - OMIM - HGNC]
• OR1A2:olfactory receptor family 1 subfamily A member 2 [Gene - OMIM - HGNC]
• OR1D2:olfactory receptor family 1 subfamily D member 2 [Gene - OMIM - HGNC]
• OR1D5:olfactory receptor family 1 subfamily D member 5 [Gene - HGNC]
• OR1E1:olfactory receptor family 1 subfamily E member 1 [Gene - HGNC]
• OR1E2:olfactory receptor family 1 subfamily E member 2 [Gene - HGNC]
• OR1G1:olfactory receptor family 1 subfamily G member 1 [Gene - HGNC]
• OR3A1:olfactory receptor family 3 subfamily A member 1 [Gene - HGNC]
• OR3A2:olfactory receptor family 3 subfamily A member 2 [Gene - HGNC]
• OR3A3:olfactory receptor family 3 subfamily A member 3 [Gene - HGNC]
• PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
• PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
• PRPF8:pre-mRNA processing factor 8 [Gene - OMIM - HGNC]
• P2RX1:purinergic receptor P2X 1 [Gene - OMIM - HGNC]
• P2RX5:purinergic receptor P2X 5 [Gene - OMIM - HGNC]
• RPH3AL:rabphilin 3A like (without C2 domains) [Gene - OMIM - HGNC]
• RFLNB:refilin B [Gene - OMIM - HGNC]
• RPA1:replication protein A1 [Gene - OMIM - HGNC]
• RTN4RL1:reticulon 4 receptor like 1 [Gene - OMIM - HGNC]
• SCARF1:scavenger receptor class F member 1 [Gene - OMIM - HGNC]
• SHPK:sedoheptulokinase [Gene - OMIM - HGNC]
• SRR:serine racemase [Gene - OMIM - HGNC]
• SERPINF1:serpin family F member 1 [Gene - OMIM - HGNC]
• SERPINF2:serpin family F member 2 [Gene - OMIM - HGNC]
• SGSM2:small G protein signaling modulator 2 [Gene - OMIM - HGNC]
• SLC43A2:solute carrier family 43 member 2 [Gene - OMIM - HGNC]
• SPATA22:spermatogenesis associated 22 [Gene - OMIM - HGNC]
• TRARG1:trafficking regulator of GLUT4 (SLC2A4) 1 [Gene - OMIM - HGNC]
• TRPV1:transient receptor potential cation channel subfamily V member 1 [Gene - OMIM - HGNC]
• TRPV3:transient receptor potential cation channel subfamily V member 3 [Gene - OMIM - HGNC]
• TIMM22:translocase of inner mitochondrial membrane 22 [Gene - OMIM - HGNC]
• YWHAE:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [Gene - OMIM - HGNC]
• LOC100288728:uncharacterized LOC100288728 [Gene]

Variant type:

copy number loss

Cytogenetic location:

17p13.3-13.2

Genomic location:

Chr17: 525 - 3825428 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1

HGVS:

NC_000017.10:g.(?_525)_(3825428_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv13639522; dbVar: nsv2776466

Observations:

1