NM_000551.4(VHL):c.422dup (p.Asn141fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000474557.7
Allele description [Variation Report for NM_000551.4(VHL):c.422dup (p.Asn141fs)]
NM_000551.4(VHL):c.422dup (p.Asn141fs)
Condition(s)
-
TBC1 domain family member 1 isoform 2 [Homo sapiens]
TBC1 domain family member 1 isoform 2 [Homo sapiens]gi|359807035|ref|NP_001240841.1|Protein
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Last Updated: Sep 29, 2024