RGD:10396041 Rat Genome Database

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Variant: RGD:10396041 -  Homo sapiens

RGD ID: 10396041
RS ID: rs776537906
ClinVar ID: CV203523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,397,380
GRCh38 19 1,397,381
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009785.1:g.9173C>T
NC_000019.10:g.1397381G>A
NC_000019.9:g.1397380G>A
NM_000156.4:c.689C>T
More... 		06/06/2022 500b downstream variant|missense variant uncertain significance CEREBRAL CREATINE DEFICIENCY SYNDROME 2; Creatine deficiency syndromes; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GAMT
Accession:NM_000156
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMIMPLVTKG*

Gene Symbol:GAMT
Accession:NM_138924
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187580 CLINVAR
  RCV000814698 CLINVAR
  RCV001833117 CLINVAR
dbSNP (RS) rs776537906 CLINVAR
MedGen C0574080 CLINVAR
  C3661900 CLINVAR
  C5244016 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR
  612736 CLINVAR
SNOMED CT 124239003 CLINVAR