Annotation Detail
Information
- Associated Genes
- CRAT
- Associated Variants
-
CRAT p.Arg27His (p.R27H)
(
ENST00000318080.7,
ENST00000393384.3,
ENST00000455396.2,
ENST00000680117.1,
ENST00000681325.1,
ENST00000681627.1,
ENST00000681725.1 )
CRAT p.Arg27His (p.R27H) ( ENST00000318080.7, ENST00000393384.3, ENST00000455396.2, ENST00000680117.1, ENST00000681325.1, ENST00000681627.1, ENST00000681725.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000755.5(CRAT):c.80G>A (p.Arg27His) AND not provided
- ClinVar Allele ID
- 1416523
- ClinVar RefSeq Alternation Syntax
- NM_001346546.2:c.83G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346549.2:c.80G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346548.2:c.17G>A
- ClinVar RefSeq Alternation Syntax
- NM_000755.5:c.80G>A
- ClinVar RefSeq Alternation Syntax
- NM_004003.4:c.17G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346547.2:c.80G>A
- ClinVar RefSeq Alternation Syntax
- NM_001257363.3:c.17G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-09-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001997562
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs