RGD:10396037 Rat Genome Database

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Variant: RGD:10396037 -  Homo sapiens

RGD ID: 10396037
RS ID: rs540554423
ClinVar ID: CV203529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,397,468
GRCh38 19 1,397,469
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.9085G>A
NC_000019.10:g.1397469C>T
NC_000019.9:g.1397468C>T
NM_000156.4:c.601G>A
More... 		08/03/2018 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: G to S (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEASFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG*

Gene Symbol:GAMT
Accession:NM_138924
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187574 CLINVAR
  RCV000697521 CLINVAR
  RCV001124345 CLINVAR
dbSNP (RS) rs540554423 CLINVAR
MedGen C0574080 CLINVAR
  C3661900 CLINVAR
  C5244016 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR
  612736 CLINVAR
SNOMED CT 124239003 CLINVAR