RGD:11050587 Rat Genome Database

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Variant: RGD:11050587 -  Homo sapiens

RGD ID: 11050587
RS ID: rs185255090
ClinVar ID: CV224164
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPL36A-HNRNPH2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 100,663,016
GRCh38 X 101,408,028
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.-125T>G
LRG_672:g.4936T>G
NG_007119.1:g.4936T>G
NC_000023.11:g.101408028A>C
More... 		06/14/2016 2kb upstream variant|intron variant benign|likely benign 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; HYPERTROPHIC MYOCARDIOPATHY; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RPL36A-HNRNPH2
Accession:NM_001199974
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000290094 CLINVAR
  RCV000349751 CLINVAR
  RCV001610526 CLINVAR
dbSNP (RS) rs185255090 CLINVAR
MedGen C0002986 CLINVAR
  C0007194 CLINVAR
  C3661900 CLINVAR
NCBI Gene GLA CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300644 CLINVAR
  301500 CLINVAR
SNOMED CT 16652001 CLINVAR