RGD:156082170 Rat Genome Database

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Variant: RGD:156082170 -  Homo sapiens

RGD ID: 156082170
ClinVar ID: CV2083732
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  LOC130062945  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 1,401,422
GRCh38 19 1,401,423
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000156.6:c.54C>G
NM_138924.3:c.54C>G
NG_009785.1:g.5131C>G
NC_000019.10:g.1401423G>C
More... 		08/10/2022 synonymous variant likely benign 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: P to P (synonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG*

Gene Symbol:GAMT
Accession:NM_138924
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQE
APIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLL
KPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIK
VLCLAQWLPGAVAQVYNPSTVEGRGGQIA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002847422 CLINVAR
MedGen C5244016 CLINVAR
NCBI Gene GAMT CLINVAR
  LOC130062945 CLINVAR
OMIM 601240 CLINVAR