NM_000359.3(TGM1):c.577T>C (p.Trp193Arg) AND Autosomal recessive congenital ichthyosis 1
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004577172.1
Allele description [Variation Report for NM_000359.3(TGM1):c.577T>C (p.Trp193Arg)]
NM_000359.3(TGM1):c.577T>C (p.Trp193Arg)
Condition(s)
- Name:
- Autosomal recessive congenital ichthyosis 1 (LI1)
- Synonyms:
- ICHTHYOSIS CONGENITA II; Ichthyosis congenita; Lamellar exfoliation of newborn; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009441; MedGen: C4551630; OMIM: 242300
Assertion and evidence details
Last Updated: Jun 23, 2024