RGD:8601866 Rat Genome Database

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Variant: RGD:8601866 -  Homo sapiens

RGD ID: 8601866
RS ID: rs111033755
ClinVar ID: CV36588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 34,648,823
GRCh38 9 34,648,826
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
NP_000146.2:p.Tyr251Ser
NC_000009.12:g.34648826A>C
NC_000009.11:g.34648823A>C
P07902:p.Tyr251Ser
More... 		03/31/2021 missense|missense variant pathogenic|likely 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; none provided; Transferase Deficiency Galactosemia
Disease Annotations     Click to see Annotation Detail View
galactosemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:GALT
Accession:NM_001258332
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLSTLCVLGPSEPTESKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQV
WASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPSQTLLLPRRHVRRLPELTP
AERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDL
TPEQAAERLRALPEVHYHLGQKDRETATIA*

Gene Symbol:GALT
Accession:NM_000155
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIR
ANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEE
LGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPSQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHA
HYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA*
Variant Samples
Additional References at PubMed
PMID:11261429  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000347842 CLINVAR
  RCV001801901 CLINVAR
dbSNP (RS) rs111033755 CLINVAR
MedGen C0268151 CLINVAR
  C3661900 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 230400 CLINVAR
  606999 CLINVAR
SNOMED CT 124354006 CLINVAR