RGD:14398987 Rat Genome Database

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Variant: RGD:14398987 -  Homo sapiens

RGD ID: 14398987
RS ID: rs368296913
ClinVar ID: CV614454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,398,754
GRCh38 19 1,398,755
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.7799T>A
NC_000019.10:g.1398755A>T
NC_000019.9:g.1398754A>T
NM_138924.2:c.731T>A
More... 		02/23/2022 intron variant likely benign|uncertain significance CEREBRAL CREATINE DEFICIENCY SYNDROME 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GAMT
Accession:NM_138924
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIK
VLCQAQWLPGAVAQVYNPSTVEGRGGQIA*

Gene Symbol:GAMT
Accession:NM_000156
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000767984 CLINVAR
  RCV003955495 CLINVAR
dbSNP (RS) rs368296913 CLINVAR
MedGen C0574080 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR
  612736 CLINVAR
SNOMED CT 124239003 CLINVAR