RGD:11050529 Rat Genome Database

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Variant: RGD:11050529 -  Homo sapiens

RGD ID: 11050529
ClinVar ID: CV224160
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPL36A-HNRNPH2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 100,662,979
GRCh38 X 101,407,991
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.-88T>C
NM_000169.2:c.-88T>C
LRG_672:g.4973T>C
NG_007119.1:g.4973T>C
More... 		12/01/2015 5 prime utr variant benign childhood 1-9 / 1 000 000 Fabry's disease

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

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

Variant Samples