RGD:11050610 Rat Genome Database

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Variant: RGD:11050610 -  Homo sapiens

RGD ID: 11050610
RS ID: rs782312723
ClinVar ID: CV224165
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNRNPH2  RPL36A-HNRNPH2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 100,663,464
GRCh38 X 101,408,476
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.-573C>G
LRG_672:g.4488C>G
NG_007119.1:g.4488C>G
NC_000023.11:g.101408476G>C
More... 		07/16/2020 2kb upstream variant|intron variant benign|uncertain significance 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:HNRPH2
Accession:NM_019597
Location:5UTRS;INTRON

Gene Symbol:HNRNPH2
Accession:NM_001032393
Location:5UTRS;INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:21683120   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002595198 CLINVAR
dbSNP (RS) rs782312723 CLINVAR
MedGen C0002986 CLINVAR
NCBI Gene GLA CLINVAR
  HNRNPH2 CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300610 CLINVAR
  300644 CLINVAR
  301500 CLINVAR
SNOMED CT 16652001 CLINVAR