RGD:38491460 Rat Genome Database

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Variant: RGD:38491460 -  Homo sapiens

RGD ID: 38491460
RS ID: rs753450355
ClinVar ID: CV960684
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 34,647,483
GRCh38 9 34,647,486
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000155.4:c.253-6C>T
NG_028966.1:g.302C>T
NG_009029.2:g.5898C>T
NC_000009.12:g.34647486C>T
More... 		08/31/2022 intron variant likely benign|uncertain significance Galactose intolerance; Galactose-1-phosphate uridyltransferase deficiency; GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; GALACTOSEMIA I; Galactosemia, classic; GALT deficiency; 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_000155
Location:INTRON

Gene Symbol:GALT
Accession:NM_001258332
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001239465 CLINVAR
  RCV001834090 CLINVAR
dbSNP (RS) rs753450355 CLINVAR
MedGen C0016952 CLINVAR
  C0268151 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 230400 CLINVAR
  606999 CLINVAR
SNOMED CT 124354006 CLINVAR
  190745006 CLINVAR