RGD:13783981 Rat Genome Database

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Variant: RGD:13783981 -  Homo sapiens

RGD ID: 13783981
RS ID: rs1554709252
ClinVar ID: CV544726
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 34,647,671
GRCh38 9 34,647,674
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000155.3:c.346C>A
NG_009029.2:g.6086C>A
NC_000009.12:g.34647674C>A
NP_000146.2:p.Leu116Ile
More...
11/07/2017 intron variant uncertain significance AllHighlyPenetrant; 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: L to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIR
ANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPIFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEE
LGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHA
HYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA*

Gene Symbol:GALT
Accession:NM_001258332
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:20547145   PMID:25124065   PMID:27005423  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000670466 CLINVAR
  RCV003479195 CLINVAR
dbSNP (RS) rs1554709252 CLINVAR
MedGen C0268151 CLINVAR
  CN169374 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 230400 CLINVAR
  606999 CLINVAR
SNOMED CT 124354006 CLINVAR