RGD:13527510 Rat Genome Database

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Variant: RGD:13527510 -  Homo sapiens

RGD ID: 13527510
RS ID: rs559092619
ClinVar ID: CV506577
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,399,804
GRCh38 19 1,399,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000156.5:c.315G>A
NM_000156.6:c.315G>A
NM_138924.3:c.315G>A
NC_000019.9:g.1399804C>T
More... 		02/01/2018 synonymous variant likely benign|uncertain significance AllHighlyPenetrant; 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_138924
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIK
VLCLAQWLPGAVAQVYNPSTVEGRGGQIA*

Gene Symbol:GAMT
Accession:NM_000156
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000599783 CLINVAR
  RCV001127001 CLINVAR
  RCV001410989 CLINVAR
dbSNP (RS) rs559092619 CLINVAR
MedGen C0574080 CLINVAR
  C5244016 CLINVAR
  CN169374 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR
  612736 CLINVAR
SNOMED CT 124239003 CLINVAR