Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Arg112His (p.R112H)
(
ENST00000391944.8,
ENST00000485403.6,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Arg112His (p.R112H) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 ) - Associated Disease
- Trichothiodystrophy 1, photosensitive
- Source Database
- ClinVar
- Description
- NM_000400.4(ERCC2):c.335G>A (p.Arg112His) AND Trichothiodystrophy 1, photosensitive
- ClinVar Allele ID
- 31823
- ClinVar RefSeq Alternation Syntax
- NM_001130867.2:c.263G>A
- ClinVar RefSeq Alternation Syntax
- NM_000400.4:c.335G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-10-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018273
- ClinVar Disease
- Trichothiodystrophy 1, photosensitive
- Observed Origin Sample
- germline
- Pubmed
- 9758621
- Pubmed
- 11709541
Drugs