Annotation Detail
Information
- Associated Genes
- GLA RPL36A-HNRNPH2
- Associated Variants
-
GLA p.Gln327Lys (p.Q327K), RPL36A-HNRNPH2 c.300+2933G>T
(
ENST00000409170.3,
ENST00000409338.5,
ENST00000218516.4,
ENST00000649178.1,
ENST00000674634.2,
ENST00000675592.1,
ENST00000676156.1,
ENST00000710365.1 )
GLA p.Gln327Lys (p.Q327K), RPL36A-HNRNPH2 c.300+2933G>T ( ENST00000218516.4, ENST00000649178.1, ENST00000674634.2, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1, ENST00000409170.3, ENST00000409338.5 ) - Associated Disease
- Fabry disease
- Source Database
- ClinVar
- Description
- NM_000169.3(GLA):c.979C>A (p.Gln327Lys) AND Fabry disease
- ClinVar Allele ID
- 25778
- ClinVar RefSeq Alternation Syntax
- NM_001199973.2:c.300+2933G>T
- ClinVar RefSeq Alternation Syntax
- NM_000169.3:c.979C>A
- ClinVar RefSeq Alternation Syntax
- NR_164783.1:n.1058C>A
- ClinVar RefSeq Alternation Syntax
- NM_001199974.2:c.177+6568G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1993-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000011487
- ClinVar Disease
- Fabry disease
- Observed Origin Sample
- germline
- Pubmed
- 8395937
Drugs