RGD:13626795 Rat Genome Database

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Variant: RGD:13626795 -  Homo sapiens

RGD ID: 13626795
RS ID: rs1555777015
ClinVar ID: CV532818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 1,398,955
GRCh38 19 1,398,956
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.7598T>G
NC_000019.10:g.1398956A>C
NC_000019.9:g.1398955A>C
NP_000147.1:p.Leu177Arg
More... 		09/18/2017 missense variant uncertain significance Creatine deficiency syndromes
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 R (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGERMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG*

Gene Symbol:GAMT
Accession:NM_138924
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGERMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIK
VLCLAQWLPGAVAQVYNPSTVEGRGGQIA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000655364 CLINVAR
dbSNP (RS) rs1555777015 CLINVAR
MedGen C5244016 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR