NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002266459.1
Allele description [Variation Report for NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)]
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Chain X, Sm-D1
Chain X, Sm-D1gi|315583602|pdb|3PGW|XProtein
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Last Updated: May 1, 2024