RGD:11590964 Rat Genome Database

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Variant: RGD:11590964 -  Homo sapiens

RGD ID: 11590964
RS ID: rs116809628
ClinVar ID: CV298365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GM2A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 150,647,413
GRCh38 5 151,267,852
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.19801G>A
NC_000005.10:g.151267852G>A
NC_000005.9:g.150647413G>A
NM_000405.5:c.*401G>A
More... 		06/20/2021 3 prime utr variant benign|likely benign infancy <1 / 1 000 000 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:3UTRS;EXON

Gene Symbol:GM2A
Accession:NM_001167607
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000324415 CLINVAR
  RCV001618636 CLINVAR
dbSNP (RS) rs116809628 CLINVAR
MedGen C0268275 CLINVAR
  C3661900 CLINVAR
NCBI Gene GM2A CLINVAR
OMIM 272750 CLINVAR
  613109 CLINVAR
SNOMED CT 71253000 CLINVAR