RGD:8601841 Rat Genome Database

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Variant: RGD:8601841 -  Homo sapiens

RGD ID: 8601841
RS ID: rs111033744
ClinVar ID: CV36565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 34,648,392
GRCh38 9 34,648,395
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.Tyr209Cys
NP_000146.2:p.Tyr209Cys
NC_000009.12:g.34648395A>G
NC_000009.11:g.34648392A>G
More... 		08/29/2020 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity neonatal/infancy 1-9 / 100 000 Galactose intolerance; 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)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GALT
Accession:NM_001258332
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLSTLCVLGPSEPTESKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQV
WASSFLPDIAQREERSQQACKSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTP
AERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDL
TPEQAAERLRALPEVHYHLGQKDRETATIA*

Gene Symbol:GALT
Accession:NM_000155
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIR
ANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEE
LGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQACKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHA
HYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA*
Variant Samples
Additional References at PubMed
PMID:10399107   PMID:10408771   PMID:10535394   PMID:10960497   PMID:11261429   PMID:11397328   PMID:12491926   PMID:12595586   PMID:16540753   PMID:17079880   PMID:17876724   PMID:17884932  
PMID:20301691   PMID:22693313   PMID:22743281   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000022167 CLINVAR
  RCV000185918 CLINVAR
  RCV001831600 CLINVAR
dbSNP (RS) rs111033744 CLINVAR
MedGen C0016952 CLINVAR
  C0268151 CLINVAR
  C3661900 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 230400 CLINVAR
  606999 CLINVAR
SNOMED CT 124354006 CLINVAR
  190745006 CLINVAR