RGD:11050766 Rat Genome Database

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Variant: RGD:11050766 -  Homo sapiens

RGD ID: 11050766
RS ID: rs869312287
ClinVar ID: CV224062
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLA  RPL36A-HNRNPH2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 100,656,798
GRCh38 X 101,401,810
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_672t1:c.370-1G>A
LRG_672:g.11154G>A
NG_007119.1:g.11154G>A
NC_000023.11:g.101401810C>T
More... 		12/01/2015 intron variant|splice acceptor variant pathogenic|likely pathogenic childhood 1-9 / 1 000 000 Alpha-galactosidase A deficiency; Anderson-Fabry disease; Angiokeratoma corporis diffusum; Angiokeratoma, diffuse; Ceramide trihexosidase deficiency; Ceramide trihexosidosis; Fabry's disease; GLA deficiency; Hereditary dystopic lipidosis
Disease Annotations     Click to see Annotation Detail View
Fabry disease  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RPL36A-HNRNPH2
Accession:NM_001199973
Location:INTRON

Gene Symbol:GLA
Accession:NM_000169
Location:INTRON

Gene Symbol:GLA
Accession:NM_001406748
Location:INTRON

Gene Symbol:GLA
Accession:NM_001406749
Location:INTRON

Gene Symbol:RPL36A-HNRNPH2
Accession:NM_001199974
Location:INTRON

Gene Symbol:GLA
Accession:NM_001406747
Location:INTRON

Gene Symbol:GLA
Accession:XM_047441990
Location:INTRON

Gene Symbol:GLA
Accession:NR_176252
Location:INTRON;NON-CODING

Gene Symbol:GLA
Accession:NR_176253
Location:INTRON;NON-CODING

Gene Symbol:GLA
Accession:NR_164783
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:1753437  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011465 CLINVAR
dbSNP (RS) rs869312287 CLINVAR
MedGen C0002986 CLINVAR
NCBI Gene GLA CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300644 CLINVAR
  301500 CLINVAR
OMIM Allele 300644.0006 CLINVAR
SNOMED CT 16652001 CLINVAR