NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr) AND Nonsyndromic genetic hearing loss
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 4, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001251624.1
Allele description [Variation Report for NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)]
NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)
Condition(s)
-
Homo sapiens phospholipase D1 (PLD1), transcript variant 1, mRNA
Homo sapiens phospholipase D1 (PLD1), transcript variant 1, mRNAgi|1519246113|ref|NM_002662.5|Nucleotide
-
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023