RGD:329350820 Rat Genome Database

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Variant: RGD:329350820 -  Homo sapiens

RGD ID: 329350820
ClinVar ID: CV2421589
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,399,183
GRCh38 19 1,399,184
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_009785.1:g.7370G>T
NC_000019.10:g.1399184C>A
NC_000019.9:g.1399183C>A
NM_000156.6:c.403G>T
More...
03/23/2023 missense variant likely pathogenic CEREBRAL CREATINE DEFICIENCY SYNDROME 2
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2421589Humanguanidinoacetate methyltransferase deficiency  IAGP 8554872ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2ClinVarPMID:25741868


Gene Symbol:GAMT
Accession:NM_138924
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYYTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIK
VLCLAQWLPGAVAQVYNPSTVEGRGGQIA*

Gene Symbol:GAMT
Accession:NM_000156
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYYTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG*

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV003159293 CLINVAR
MedGen C0574080 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR
  612736 CLINVAR
SNOMED CT 124239003 CLINVAR