NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) AND not specified
- Germline classification:
- Benign/Likely benign (4 submissions)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000193608.13
Allele description [Variation Report for NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)]
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
EFL1[gene] (469)
ClinVar
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Last Updated: Sep 16, 2024