NM_001242313.1(TMEM191B):c.746T>C (p.Val249Ala) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004176065.1
Allele description [Variation Report for NM_001242313.1(TMEM191B):c.746T>C (p.Val249Ala)]
NM_001242313.1(TMEM191B):c.746T>C (p.Val249Ala)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Homo sapiens transmembrane protein 191B (TMEM191B), transcript varian...
PREDICTED: Homo sapiens transmembrane protein 191B (TMEM191B), transcript variant X1, mRNAgi|2217340097|ref|XM_011546160.4|Nucleotide
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Last Updated: Oct 13, 2024