RGD:38457355 Rat Genome Database

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Variant: RGD:38457355 -  Homo sapiens

RGD ID: 38457355
RS ID: rs1680245631
ClinVar ID: CV920351
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEXA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 72,645,538
GRCh38 15 72,353,197
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.9:g.72645538G>A
NM_000520.6:c.460-19C>T
NM_001318825.2:c.493-19C>T
NM_000520.4:c.460-19C>T
More... 		05/19/2023 intron variant conflicting interpretations of pathogenicity|uncertain significance GM2 gangliosidosis, type 1; HexA deficiency; Hexosaminidase A Deficiency; Hexosaminidase alpha-subunit deficiency (variant B); Sphingolipidosis, Tay-Sachs
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HEXA
Accession:NM_000520
Location:INTRON

Gene Symbol:HEXA
Accession:NM_001318825
Location:INTRON

Gene Symbol:HEXA
Accession:NR_134869
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001198815 CLINVAR
dbSNP (RS) rs1680245631 CLINVAR
MedGen C0039373 CLINVAR
NCBI Gene HEXA CLINVAR
OMIM 272800 CLINVAR
  606869 CLINVAR
SNOMED CT 111385000 CLINVAR