RGD:8601734 Rat Genome Database

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Variant: RGD:8601734 -  Homo sapiens

RGD ID: 8601734
ClinVar ID: CV36462
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  LOC130001683  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 34,647,120
GRCh38 9 34,647,123
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.117T>C
NC_000009.12:g.34647123T>C
NC_000009.11:g.34647120T>C
NP_000146.2:p.Asp39=
More... 		12/04/2012 5 prime utr variant|synonymous 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_001258332
Location:5UTRS;EXON

Gene Symbol:GALT
Accession:NM_000155
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIR
ANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEE
LGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHA
HYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA*
Variant Samples