RGD:11594792 Rat Genome Database

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Variant: RGD:11594792 -  Homo sapiens

RGD ID: 11594792
RS ID: rs542291291
ClinVar ID: CV296458
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GM2A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 150,647,257
GRCh38 5 151,267,696
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
NM_000405.5:c.*245G>A
NM_000405.4:c.*245G>A
NG_009059.1:g.19645G>A
NC_000005.10:g.151267696G>A
More... 		06/14/2016 3 prime utr variant uncertain significance infancy <1 / 1 000 000 Gm2-gangliosidosis, ab variant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GM2A
Accession:NM_001167607
Location:3UTRS;EXON

Gene Symbol:GM2A
Accession:NM_000405
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000363025 CLINVAR
dbSNP (RS) rs542291291 CLINVAR
MedGen C0268275 CLINVAR
NCBI Gene GM2A CLINVAR
OMIM 272750 CLINVAR
  613109 CLINVAR
SNOMED CT 71253000 CLINVAR