RGD:13435698 Rat Genome Database

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Variant: RGD:13435698 -  Homo sapiens

RGD ID: 13435698
RS ID: rs149661366
ClinVar ID: CV432440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEXA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 72,662,987
GRCh38 15 72,370,646
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.72370646G>A
NC_000015.9:g.72662987G>A
NM_000520.4:c.253+5074C>T
NM_000520.6:c.253+5074C>T
More... 		08/31/2017 intron variant likely benign 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_001318825
Location:INTRON

Gene Symbol:HEXA
Accession:NM_000520
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000505698 CLINVAR
dbSNP (RS) rs149661366 CLINVAR
MedGen C0039373 CLINVAR
NCBI Gene HEXA CLINVAR
OMIM 272800 CLINVAR
  606869 CLINVAR
SNOMED CT 111385000 CLINVAR