RGD:10449836 Rat Genome Database

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Variant: RGD:10449836 -  Homo sapiens

RGD ID: 10449836
RS ID: rs3027584
ClinVar ID: CV215608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPL36A-HNRNPH2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 100,662,921
GRCh38 X 101,407,933
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
p.?
LRG_672t1:c.-30G>A
LRG_672:g.5031G>A
NG_007119.1:g.5031G>A
More... 		12/18/2021 5 prime utr variant|intron variant association|benign|likely benign|conflicting interpretations of pathogenicity childhood 1-9 / 1 000 000 AllHighlyPenetrant; 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; none provided
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:RPL36A-HNRNPH2
Accession:NM_001199974
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000202987 CLINVAR
  RCV001701796 CLINVAR
  RCV001711355 CLINVAR
dbSNP (RS) rs3027584 CLINVAR
MedGen C0002986 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GLA CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300644 CLINVAR
  301500 CLINVAR
SNOMED CT 16652001 CLINVAR