RGD:10396035 Rat Genome Database

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Variant: RGD:10396035 -  Homo sapiens

RGD ID: 10396035
RS ID: rs758371494
ClinVar ID: CV203536
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 1,398,962
GRCh38 19 1,398,963
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.7591G>C
NC_000019.10:g.1398963C>G
NC_000019.9:g.1398962C>G
NM_000156.4:c.523G>C
More... 		02/02/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GAMT
Accession:NM_138924
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWRELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIK
VLCLAQWLPGAVAQVYNPSTVEGRGGQIA*

Gene Symbol:GAMT
Accession:NM_000156
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWRELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000187570 CLINVAR
dbSNP (RS) rs758371494 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR