Annotation Detail
Information
- Associated Genes
- GLA RPL36A-HNRNPH2
- Associated Variants
-
GLA p.Arg342Gln (p.R342Q), RPL36A-HNRNPH2 c.300+2617C>T
(
ENST00000409338.5,
ENST00000218516.4,
ENST00000409170.3,
ENST00000649178.1,
ENST00000675592.1,
ENST00000676156.1,
ENST00000710365.1 )
GLA p.Arg342Gln (p.R342Q), RPL36A-HNRNPH2 c.300+2617C>T ( ENST00000218516.4, ENST00000649178.1, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1, ENST00000409170.3, ENST00000409338.5 ) - Associated Disease
- Fabry disease
- Source Database
- ClinVar
- Description
- NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) AND Fabry disease
- ClinVar Allele ID
- 25781
- ClinVar RefSeq Alternation Syntax
- NM_001199973.2:c.300+2617C>T
- ClinVar RefSeq Alternation Syntax
- NM_001199974.2:c.177+6252C>T
- ClinVar RefSeq Alternation Syntax
- NR_164783.1:n.1104G>A
- ClinVar RefSeq Alternation Syntax
- NM_000169.3:c.1025G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000011490
- ClinVar Disease
- Fabry disease
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 11531972
Drugs