RGD:13539427 Rat Genome Database

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Variant: RGD:13539427 -  Homo sapiens

RGD ID: 13539427
RS ID: rs748982285
ClinVar ID: CV507627
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 1,398,855
GRCh38 19 1,398,856
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.7698A>G
NC_000019.10:g.1398856T>C
NC_000019.9:g.1398855T>C
NM_000156.4:c.570+60A>G
More...
07/27/2017 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GAMT
Accession:NM_138924
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIK
VLCLAQWLPGAVAQVYNPSTVEGRGGQIA*

Gene Symbol:GAMT
Accession:NM_000156
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000613258 CLINVAR
dbSNP (RS) rs748982285 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR