RGD:12743339 Rat Genome Database

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Variant: RGD:12743339 -  Homo sapiens

RGD ID: 12743339
RS ID: rs1057519021
ClinVar ID: CV362044
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GM2A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 150,646,902
GRCh38 5 151,267,341
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.19290G>T
NC_000005.10:g.151267341G>T
NC_000005.9:g.150646902G>T
p.E158X
More...
01/09/2017 intron variant pathogenic|likely pathogenic 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_000405
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPL
KVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDL*LP
SWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI*

Gene Symbol:GM2A
Accession:NM_001167607
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000416329 CLINVAR
dbSNP (RS) rs1057519021 CLINVAR
MedGen C0268275 CLINVAR
NCBI Gene GM2A CLINVAR
OMIM 272750 CLINVAR
  613109 CLINVAR
SNOMED CT 71253000 CLINVAR