Annotation Detail
Information
- Associated Genes
- NLRP1
- Associated Variants
-
NLRP1 p.Leu155His (p.L155H)
(
ENST00000699613.1,
ENST00000571307.2,
ENST00000262467.11,
ENST00000699707.1,
ENST00000699634.1,
ENST00000576905.6,
ENST00000354411.8,
ENST00000617618.5,
ENST00000699633.1,
ENST00000269280.9,
ENST00000699614.1,
ENST00000699712.1,
ENST00000572272.6,
ENST00000699626.1,
ENST00000699710.1,
ENST00000577119.5,
ENST00000571451.7 )
NLRP1 p.Leu155His (p.L155H) ( ENST00000262467.11, ENST00000269280.9, ENST00000354411.8, ENST00000571307.2, ENST00000571451.7, ENST00000572272.6, ENST00000576905.6, ENST00000577119.5, ENST00000617618.5, ENST00000699613.1, ENST00000699614.1, ENST00000699626.1, ENST00000699633.1, ENST00000699634.1, ENST00000699707.1, ENST00000699710.1, ENST00000699712.1 ) - Associated Disease
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- Source Database
- ClinVar
- Description
- NM_033004.4(NLRP1):c.464T>A (p.Leu155His) AND Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- ClinVar Allele ID
- 19202
- ClinVar RefSeq Alternation Syntax
- NM_001033053.3:c.464T>A
- ClinVar RefSeq Alternation Syntax
- NM_033004.4:c.464T>A
- ClinVar RefSeq Alternation Syntax
- NM_033007.4:c.464T>A
- ClinVar RefSeq Alternation Syntax
- NM_033006.4:c.464T>A
- ClinVar RefSeq Alternation Syntax
- NM_014922.5:c.464T>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001781175
- ClinVar Disease
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- Observed Origin Sample
- germline
Drugs