RGD:13526582 Rat Genome Database

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Variant: RGD:13526582 -  Homo sapiens

RGD ID: 13526582
RS ID: rs746723263
ClinVar ID: CV507626
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,397,427
GRCh38 19 1,397,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008283.1:g.18545C>T
NM_000156.6:c.642G>A
NP_000147.1:p.Leu214=
NC_000019.9:g.1397427C>T
More... 		10/25/2020 synonymous variant likely benign AllHighlyPenetrant; 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: L to L (synonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG*

Gene Symbol:GAMT
Accession:NM_138924
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000604315 CLINVAR
  RCV001442050 CLINVAR
  RCV001702813 CLINVAR
dbSNP (RS) rs746723263 CLINVAR
MedGen C3661900 CLINVAR
  C5244016 CLINVAR
  CN169374 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR