RGD:8601862 Rat Genome Database

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Variant: RGD:8601862 -  Homo sapiens

RGD ID: 8601862
RS ID: rs111033757
ClinVar ID: CV36585
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 34,648,816
GRCh38 9 34,648,819
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.34648819T>C
NC_000009.11:g.34648816T>C
NP_000146.2:p.Trp249Arg
P07902:p.Trp249Arg
More... 		08/14/2021 missense|missense variant pathogenic|uncertain significance 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
Disease Annotations     Click to see Annotation Detail View
galactosemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:GALT
Accession:NM_000155
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIR
ANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEE
LGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATRPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHA
HYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA*

Gene Symbol:GALT
Accession:NM_001258332
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLSTLCVLGPSEPTESKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQV
WASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATRPYQTLLLPRRHVRRLPELTP
AERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDL
TPEQAAERLRALPEVHYHLGQKDRETATIA*
Variant Samples
Additional References at PubMed
PMID:10573007   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001957888 CLINVAR
dbSNP (RS) rs111033757 CLINVAR
MedGen C0268151 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 230400 CLINVAR
  606999 CLINVAR
SNOMED CT 124354006 CLINVAR