RGD:8601771 Rat Genome Database

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Variant: RGD:8601771 -  Homo sapiens

RGD ID: 8601771
RS ID: rs111033681
ClinVar ID: CV36498
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 34,647,703
GRCh38 9 34,647,706
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_000009.12:g.34647706G>T
NC_000009.11:g.34647703G>T
NG_009029.2:g.6118G>T
NG_028966.1:g.522G>T
More... 		12/04/2012 intron|intron variant|splice donor variant|splice-5 pathogenic neonatal/infancy 1-9 / 100 000 Galactose intolerance; Galactose-1-phosphate uridyltransferase deficiency; GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; GALACTOSEMIA I; Galactosemia, classic; GALT deficiency; none provided; Transferase Deficiency Galactosemia
Disease Annotations     Click to see Annotation Detail View
galactosemia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GALT
Accession:NM_001258332
Location:INTRON

Gene Symbol:GALT
Accession:NM_000155
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10408771   PMID:10573007   PMID:16199547   PMID:22944367   PMID:25741868   PMID:28492532   PMID:31194895  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001250222 CLINVAR
  RCV003159557 CLINVAR
  RCV003502509 CLINVAR
dbSNP (RS) rs111033681 CLINVAR
MedGen C0016952 CLINVAR
  C0268151 CLINVAR
  C3661900 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 230400 CLINVAR
  606999 CLINVAR
SNOMED CT 124354006 CLINVAR
  190745006 CLINVAR