NM_000165.5(GJA1):c.129A>G (p.Ser43=) AND Syndactyly type 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 28, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001151878.4
Allele description [Variation Report for NM_000165.5(GJA1):c.129A>G (p.Ser43=)]
NM_000165.5(GJA1):c.129A>G (p.Ser43=)
Condition(s)
- Name:
- Syndactyly type 3 (SDTY3)
- Synonyms:
- SYNDACTYLY OF FINGERS IV AND V; Syndactyly of the ring and little finger; Syndactyly of fingers four and five; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008514; MedGen: C1861366; Orphanet: 93404; OMIM: 186100
Assertion and evidence details
Last Updated: Apr 9, 2023