NM_001193315.2(VIPAS39):c.761C>T (p.Ala254Val) AND VIPAS39-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003412159.4
Allele description [Variation Report for NM_001193315.2(VIPAS39):c.761C>T (p.Ala254Val)]
NM_001193315.2(VIPAS39):c.761C>T (p.Ala254Val)
Condition(s)
- Name:
- VIPAS39-related disorder
- Synonyms:
- VIPAS39-related condition
- Identifiers:
-
Homo sapiens KH and NYN domain containing (KHNYN), transcript variant 1, mRNA
Homo sapiens KH and NYN domain containing (KHNYN), transcript variant 1, mRNAgi|1519313638|ref|NM_015299.3|Nucleotide
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Last Updated: May 26, 2024