NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002479727.1
Allele description [Variation Report for NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys)]
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys)
Condition(s)
- Name:
- Asphyxiating thoracic dystrophy 5 (SRTD5)
- Synonyms:
- SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 5 WITHOUT POLYDACTYLY
- Identifiers:
- MONDO: MONDO:0013717; MedGen: C3280598; Orphanet: 474; OMIM: 614376
- Name:
- Nephronophthisis 13 (NPHP13)
- Identifiers:
- MONDO: MONDO:0013718; MedGen: C3280612; Orphanet: 655; OMIM: 614377
- Name:
- Cranioectodermal dysplasia 4 (CED4)
- Identifiers:
- MONDO: MONDO:0013719; MedGen: C3280616; Orphanet: 1515; OMIM: 614378
-
Mus musculus lymphocyte antigen 9 (Ly9), transcript variant 1, mRNA
Mus musculus lymphocyte antigen 9 (Ly9), transcript variant 1, mRNAgi|2318375362|ref|NM_008534.4|Nucleotide
-
RecName: Full=Endogenous retrovirus group K member 10 Gag polyprotein; AltName: ...
RecName: Full=Endogenous retrovirus group K member 10 Gag polyprotein; AltName: Full=HERV-K10 Gag protein; AltName: Full=HERV-K107 Gag protein; AltName: Full=HERV-K_5q33.3 provirus ancestral Gag polyprotein; Short=Gag polyproteingi|134035263|sp|P87889.4|GAK10_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024