RGD:9688685 Rat Genome Database

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Variant: RGD:9688685 -  Homo sapiens

RGD ID: 9688685
RS ID: rs1048723
ClinVar ID: CV177752
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GM2A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 150,647,012
GRCh38 5 151,267,451
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_009059.1:g.19400A>G
NC_000005.10:g.151267451A>G
NC_000005.9:g.150647012A>G
NP_000396.2:p.(=)
More... 		06/14/2016 intron variant|synonymous variant benign infancy <1 / 1 000 000 AllHighlyPenetrant; Gm2-gangliosidosis, ab variant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GM2A
Accession:NM_000405
Location:EXON

Gene Symbol:GM2A
Accession:NM_001167607
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000153334 CLINVAR
  RCV000278116 CLINVAR
  RCV000675625 CLINVAR
dbSNP (RS) rs1048723 CLINVAR
MedGen C0268275 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GM2A CLINVAR
OMIM 272750 CLINVAR
  613109 CLINVAR
SNOMED CT 71253000 CLINVAR