NM_000166.6(GJB1):c.101T>C (p.Met34Thr) AND GJB1-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003401459.4
Allele description [Variation Report for NM_000166.6(GJB1):c.101T>C (p.Met34Thr)]
NM_000166.6(GJB1):c.101T>C (p.Met34Thr)
Condition(s)
- Name:
- GJB1-related disorder
- Synonyms:
- GJB1-related condition; GJB1-related disorders
- Identifiers:
-
mitochondrial carnitine/acylcarnitine carrier protein [Phodopus roborovskii]
mitochondrial carnitine/acylcarnitine carrier protein [Phodopus roborovskii]gi|2318659059|ref|XP_051059980.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024