RGD:28903531 Rat Genome Database

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Variant: RGD:28903531 -  Homo sapiens

RGD ID: 28903531
RS ID: rs191120902
ClinVar ID: CV893628
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GM2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 150,647,876
GRCh38 5 151,268,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000405.5:c.*864C>T
NG_009059.1:g.20264C>T
NC_000005.10:g.151268315C>T
NC_000005.9:g.150647876C>T
More... 		01/13/2018 3 prime utr variant likely benign Gm2-gangliosidosis, ab variant
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 RCV001157598 CLINVAR
dbSNP (RS) rs191120902 CLINVAR
MedGen C0268275 CLINVAR
NCBI Gene GM2A CLINVAR
OMIM 272750 CLINVAR
  613109 CLINVAR
SNOMED CT 71253000 CLINVAR