NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met) AND Deafness, autosomal recessive 12, modifier of
- Germline classification:
- risk factor (1 submission)
- Last evaluated:
- Apr 14, 2005
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000019379.25
Allele description [Variation Report for NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met)]
NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met)
Condition(s)
- Name:
- Deafness, autosomal recessive 12, modifier of
- Identifiers:
- MedGen: C4015888
-
Mus musculus ATP-binding cassette, sub-family C member 8 (Abcc8), transcript var...
Mus musculus ATP-binding cassette, sub-family C member 8 (Abcc8), transcript variant 2, mRNAgi|2213207078|ref|NM_001357538.2|Nucleotide
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Last Updated: May 26, 2024