RGD:10397560 Rat Genome Database

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Variant: RGD:10397560 -  Homo sapiens

RGD ID: 10397560
RS ID: rs796052532
ClinVar ID: CV203551
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  LOC130062945  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 1,401,348
GRCh38 19 1,401,349
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.5205A>G
NC_000019.10:g.1401349T>C
NC_000019.9:g.1401348T>C
NM_000156.4:c.128A>G
More... 		08/10/2012 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GAMT
Accession:NM_000156
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMGRWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG*

Gene Symbol:GAMT
Accession:NM_138924
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMGRWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIK
VLCLAQWLPGAVAQVYNPSTVEGRGGQIA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000187587 CLINVAR
dbSNP (RS) rs796052532 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GAMT CLINVAR
  LOC130062945 CLINVAR
OMIM 601240 CLINVAR