RGD:11050792 Rat Genome Database

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Variant: RGD:11050792 -  Homo sapiens

RGD ID: 11050792
ClinVar ID: CV223844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLA  RPL36A-HNRNPH2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 100,653,093
GRCh38 X 101,398,105
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.1000-6T>C
NM_000169.2:c.1000-6T>C
LRG_672:g.14859T>C
NG_007119.1:g.14859T>C
More... 		12/01/2015 intron variant benign childhood 1-9 / 1 000 000 Fabry's disease

Variant Details
Variant Transcripts
Gene Symbol:GLA
Accession:XM_047441990
Location:INTRON

Gene Symbol:GLA
Accession:NM_001406748
Location:INTRON

Gene Symbol:RPL36A-HNRNPH2
Accession:NM_001199973
Location:INTRON

Gene Symbol:GLA
Accession:NM_001406749
Location:INTRON

Gene Symbol:GLA
Accession:NM_000169
Location:INTRON

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

Gene Symbol:GLA
Accession:NM_001406747
Location:INTRON

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

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

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

Variant Samples