RGD:11664835 Rat Genome Database

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Variant: RGD:11664835 -  Homo sapiens

RGD ID: 11664835
RS ID: rs886054247
ClinVar ID: CV348225
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  LOC130062945  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,401,343
GRCh38 19 1,401,344
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009785.1:g.5210T>A
NC_000019.10:g.1401344A>T
NC_000019.9:g.1401343A>T
NP_000147.1:p.Trp45Arg
More...
11/08/2023 missense variant pathogenic|likely pathogenic childhood <1 / 1 000 000 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; Creatine deficiency syndromes
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GAMT
Accession:NM_000156
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERRETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG*

Gene Symbol:GAMT
Accession:NM_138924
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERRETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIK
VLCLAQWLPGAVAQVYNPSTVEGRGGQIA*

Variant Samples
Additional References at PubMed
PMID:23660394   PMID:24268530   PMID:24415674   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000389374 CLINVAR
  RCV001224201 CLINVAR
dbSNP (RS) rs886054247 CLINVAR
MedGen C0574080 CLINVAR
  C5244016 CLINVAR
NCBI Gene GAMT CLINVAR
  LOC130062945 CLINVAR
OMIM 601240 CLINVAR
  612736 CLINVAR
SNOMED CT 124239003 CLINVAR