NM_000165.5(GJA1):c.366T>C (p.Asn122=) AND Oculodentodigital dysplasia, autosomal recessive
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002105707.6
Allele description [Variation Report for NM_000165.5(GJA1):c.366T>C (p.Asn122=)]
NM_000165.5(GJA1):c.366T>C (p.Asn122=)
Condition(s)
-
CBWN2950.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8854988 3', mR...
CBWN2950.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8854988 3', mRNA sequencegi|133782556|gnl|dbEST|45212162|gb| 202.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024