RGD:21070250 Rat Genome Database

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Variant: RGD:21070250 -  Homo sapiens

RGD ID: 21070250
RS ID: rs368221789
ClinVar ID: CV789797
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,399,018
GRCh38 19 1,399,019
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_620279.1:p.Ala156Asp
NG_009785.1:g.7535C>A
NC_000019.10:g.1399019G>T
NC_000019.9:g.1399018G>T
More... 		05/28/2019 missense variant uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:GAMT
Accession:NM_000156
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHDFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG*

Gene Symbol:GAMT
Accession:NM_138924
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHDFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIK
VLCLAQWLPGAVAQVYNPSTVEGRGGQIA*
Variant Samples
Additional References at PubMed
PMID:26003046   PMID:35094435  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000986198 CLINVAR
  RCV002282415 CLINVAR
dbSNP (RS) rs368221789 CLINVAR
MedGen CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR