RGD:8601807 Rat Genome Database

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Variant: RGD:8601807 -  Homo sapiens

RGD ID: 8601807
ClinVar ID: CV36530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 34,648,101
GRCh38 9 34,648,104
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
M60091.1:c.508-11C>A
NC_000009.12:g.34648104C>A
NC_000009.11:g.34648101C>A
NG_009029.2:g.6516C>A
More... 		12/04/2012 intron|intron variant benign neonatal/infancy 1-9 / 100 000 Galactose-1-phosphate uridyltransferase deficiency; GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; GALACTOSEMIA I; Galactosemia, classic; GALT deficiency; Transferase Deficiency Galactosemia

Variant Details
Variant Transcripts
Gene Symbol:GALT
Accession:NM_000155
Location:INTRON

Gene Symbol:GALT
Accession:NM_001258332
Location:INTRON

Variant Samples