RGD:28875729 Rat Genome Database

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Variant: RGD:28875729 -  Homo sapiens

RGD ID: 28875729
RS ID: rs183251779
ClinVar ID: CV901961
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 34,650,551
GRCh38 9 34,650,554
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258332.2:c.*105A>G
NC_000009.12:g.34650554A>G
NC_000009.11:g.34650551A>G
NG_009029.2:g.8966A>G
More... 		01/13/2018 3 prime utr variant uncertain significance 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)


Variant Details
Variant Transcripts
Gene Symbol:GALT
Accession:NM_001258332
Location:3UTRS;EXON

Gene Symbol:GALT
Accession:NM_000155
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001165907 CLINVAR
dbSNP (RS) rs183251779 CLINVAR
MedGen C0268151 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 230400 CLINVAR
  606999 CLINVAR
SNOMED CT 124354006 CLINVAR