NM_021954.4(GJA3):c.715G>A (p.Gly239Ser) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004627113.1
Allele description [Variation Report for NM_021954.4(GJA3):c.715G>A (p.Gly239Ser)]
NM_021954.4(GJA3):c.715G>A (p.Gly239Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
gap junction alpha-3 protein isoform X1 [Homo sapiens]
gap junction alpha-3 protein isoform X1 [Homo sapiens]gi|767977600|ref|XP_011533350.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024