NM_001374736.1(DST):c.21243T>A (p.Ser7081Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 16, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001241868.6
Allele description [Variation Report for NM_001374736.1(DST):c.21243T>A (p.Ser7081Arg)]
NM_001374736.1(DST):c.21243T>A (p.Ser7081Arg)
Condition(s)
- Name:
- Hereditary sensory and autonomic neuropathy type 6
- Synonyms:
- HSAN VI; Neuropathy, hereditary sensory and autonomic, type VI
- Identifiers:
- MONDO: MONDO:0013839; MedGen: C3539003; Orphanet: 314381; OMIM: 614653
- Name:
- Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency (EBS3)
- Synonyms:
- Epidermolysis bullosa simplex, autosomal recessive 2; Epidermolysis bullosa simplex due to BP230 deficiency
- Identifiers:
- MONDO: MONDO:0014180; MedGen: C3809470; Orphanet: 412181; OMIM: 615425
Assertion and evidence details
Last Updated: Mar 5, 2024