RGD:13834666 Rat Genome Database

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Variant: RGD:13834666 -  Homo sapiens

RGD ID: 13834666
RS ID: rs398123182
ClinVar ID: CV585916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 34,648,166
GRCh38 9 34,648,169
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009029.2:g.6581C>T
NC_000009.12:g.34648169C>T
NC_000009.11:g.34648166C>T
NP_000146.2:p.Gln188Ter
More... 		09/21/2023 nonsense pathogenic|likely pathogenic 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: Q to * (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLSTLCVLGPSEPTESKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHC*V
WASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTP
AERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDL
TPEQAAERLRALPEVHYHLGQKDRETATIA*

Gene Symbol:GALT
Accession:NM_000155
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIR
ANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEE
LGAQYPWVQIFENKGAMMGCSNPHPHC*VWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHA
HYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000730245 CLINVAR
  RCV003461006 CLINVAR
dbSNP (RS) rs398123182 CLINVAR
MedGen C0268151 CLINVAR
  C3661900 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 230400 CLINVAR
  606999 CLINVAR
SNOMED CT 124354006 CLINVAR