RGD:11632559 Rat Genome Database

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Variant: RGD:11632559 -  Homo sapiens

RGD ID: 11632559
RS ID: rs77707876
ClinVar ID: CV341267
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEXA-AS1  LOC127830080  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 72,668,480
GRCh38 15 72,376,139
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
NC_000015.9:g.72668480C>T
NR_027262.1:n.27C>T
NC_000015.10:g.72376139C>T
NM_000520.4:c.-167G>A
More... 		01/20/2019 5 prime utr variant|non-coding transcript variant likely benign|conflicting interpretations of pathogenicity|uncertain significance all ages 1-5 / 10 000 GM2 gangliosidosis, type 1; HexA deficiency; Hexosaminidase A Deficiency; Hexosaminidase alpha-subunit deficiency (variant B); none provided; Sphingolipidosis, Tay-Sachs
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HEXA-AS1
Accession:NR_027262
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265963 CLINVAR
  RCV001567832 CLINVAR
dbSNP (RS) rs77707876 CLINVAR
MedGen C0039373 CLINVAR
  C3661900 CLINVAR
NCBI Gene HEXA CLINVAR
  HEXA-AS1 CLINVAR
OMIM 272800 CLINVAR
  606869 CLINVAR
SNOMED CT 111385000 CLINVAR