RGD:8639449 Rat Genome Database

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Variant: RGD:8639449 -  Homo sapiens

RGD ID: 8639449
RS ID: rs398123187
ClinVar ID: CV98433
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 34,649,405
GRCh38 9 34,649,408
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.34649408A>G
NC_000009.11:g.34649405A>G
NG_009029.2:g.7820A>G
NM_001258332.2:c.578-2A>G
More... 		07/13/2022 splice acceptor variant|splice-3 pathogenic|likely pathogenic neonatal/infancy 1-9 / 100 000 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)


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

Gene Symbol:GALT
Accession:NM_001258332
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:22944367   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000078242 CLINVAR
  RCV002513821 CLINVAR
dbSNP (RS) rs398123187 CLINVAR
MedGen C0268151 CLINVAR
  C3661900 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 230400 CLINVAR
  606999 CLINVAR
SNOMED CT 124354006 CLINVAR