NM_005006.7(NDUFS1):c.2107G>A (p.Ala703Thr) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 13, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000199572.2
Allele description [Variation Report for NM_005006.7(NDUFS1):c.2107G>A (p.Ala703Thr)]
NM_005006.7(NDUFS1):c.2107G>A (p.Ala703Thr)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 23, 2022