NM_000344.4(SMN1):c.419A>T (p.Asp140Val) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 3, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000785809.2
Allele description [Variation Report for NM_000344.4(SMN1):c.419A>T (p.Asp140Val)]
NM_000344.4(SMN1):c.419A>T (p.Asp140Val)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024