NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Sep 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001781528.6
Allele description [Variation Report for NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)]
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
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Last Updated: Sep 29, 2024