RGD:8561897 Rat Genome Database

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Variant: RGD:8561897 -  Homo sapiens

RGD ID: 8561897
RS ID: rs199473684
ClinVar ID: CV25807
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLA  RPL36A-HNRNPH2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 100,654,735
GRCh38 X 101,399,747
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
NG_007119.1:g.13217G>A
NC_000023.11:g.101399747C>T
NC_000023.10:g.100654735C>T
LRG_672:g.13217G>A
More... 		10/11/2021 intron|intron variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance childhood 1-5 / 10 000|1-9 / 1 000 000 Alpha-galactosidase A deficiency; Anderson-Fabry disease; Angiokeratoma corporis diffusum; Angiokeratoma, diffuse; Cardiomyopathies; Ceramide trihexosidase deficiency; Ceramide trihexosidosis; Fabry's disease; GLA deficiency; Hereditary dystopic lipidosis; Hypertrophic cardiomyopathy; 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:GLA
Accession:NR_164783
Location:EXON;NON-CODING

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

Gene Symbol:GLA
Accession:NM_001406749
Location:INTRON

Gene Symbol:GLA
Accession:NM_001406747
Location:INTRON

Gene Symbol:GLA
Accession:XM_047441990
Location:INTRON

Gene Symbol:GLA
Accession:NM_001406748
Location:INTRON

Gene Symbol:GLA
Accession:NM_000169
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:11828341   PMID:19621417   PMID:19823873   PMID:20031620   PMID:20821055   PMID:22437327   PMID:23109060   PMID:24033266   PMID:24980630   PMID:25611685   PMID:25741868   PMID:26869469  
PMID:27554049   PMID:27595546   PMID:27931613   PMID:28082092   PMID:28377241   PMID:28430823   PMID:28492532   PMID:29215092   PMID:29875425   PMID:30380558   PMID:30386727   PMID:30662066  
PMID:30731207   PMID:31028938   PMID:32246049   PMID:35743592   PMID:36013057  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011515 CLINVAR
  RCV000154318 CLINVAR
  RCV000728949 CLINVAR
  RCV000769537 CLINVAR
  RCV000844706 CLINVAR
  RCV002362578 CLINVAR
dbSNP (RS) rs199473684 CLINVAR
MedGen C0002986 CLINVAR
  C0878544 CLINVAR
  C1970820 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene GLA CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300644 CLINVAR
  301500 CLINVAR
OMIM Allele 300644.0056 CLINVAR
SNOMED CT 16652001 CLINVAR
  85898001 CLINVAR