Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Tyr276Asn (p.Y276N)
(
ENST00000544573.5,
ENST00000206765.11 )
TGM1 p.Tyr276Asn (p.Y276N) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- autosomal recessive congenital ichthyosis 1
- Source Database
- ClinVar
- Description
- NM_000359.3(TGM1):c.826T>A (p.Tyr276Asn) AND Autosomal recessive congenital ichthyosis 1
- ClinVar Allele ID
- 48126
- ClinVar RefSeq Alternation Syntax
- NM_000359.3:c.826T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032725
- ClinVar Disease
- Autosomal recessive congenital ichthyosis 1
- Observed Origin Sample
- germline
- Pubmed
- 16968736
- Pubmed
- 19212342
Drugs