RGD:8601844 Rat Genome Database

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Variant: RGD:8601844 -  Homo sapiens

RGD ID: 8601844
RS ID: rs111033746
ClinVar ID: CV36568
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 34,648,400
GRCh38 9 34,648,403
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.34648403C>T
NC_000009.11:g.34648400C>T
NP_000146.2:p.Gln212*
NP_000146.2:p.Gln212Ter
More... 		12/18/2014 nonsense|stop-gain pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters 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_000155
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIR
ANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEE
LGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKS*HGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHA
HYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA*

Gene Symbol:GALT
Accession:NM_001258332
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLSTLCVLGPSEPTESKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQV
WASSFLPDIAQREERSQQAYKS*HGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTP
AERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDL
TPEQAAERLRALPEVHYHLGQKDRETATIA*
Variant Samples
Additional References at PubMed
PMID:8522334   PMID:9222760   PMID:15633893   PMID:17876724   PMID:22944367   PMID:25741868   PMID:28492532   PMID:30172461  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000022170 CLINVAR
  RCV000723558 CLINVAR
dbSNP (RS) rs111033746 CLINVAR
MedGen C0268151 CLINVAR
  C3661900 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 230400 CLINVAR
  606999 CLINVAR
SNOMED CT 124354006 CLINVAR