RGD:13807997 Rat Genome Database

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Variant: RGD:13807997 -  Homo sapiens

RGD ID: 13807997
RS ID: rs1566843333
ClinVar ID: CV569422
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATM  LOC130056991  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 45,670,615
GRCh38 15 45,378,417
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001482.2:c.37G>A
NG_011674.2:g.28901G>A
NC_000015.10:g.45378417C>T
NC_000015.9:g.45670615C>T
More... 		04/05/2018 intron variant uncertain significance AGAT deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY; GATM DEFICIENCY; L-Arginine:Glycine Amidinotransferase Deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATM
Accession:NM_001321015
Location:5UTRS;INTRON

Gene Symbol:GATM
Accession:XM_047432388
Location:5UTRS;INTRON

Gene Symbol:GATM
Accession:XM_047432385
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRGAAGAERGYKRPRAPRARPPRSGRALGKAWTDAAQRPGTFRAWTSRARAMLRVRCLRGGSRSAEAVHYIGSRLGRT
LTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFY
QKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWR
SRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFA
QRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPD
DHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD*

Gene Symbol:GATM
Accession:NM_001482
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRVRCLRGGSRSAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIV
GRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFES
TGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAA
QGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNP
DRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANS
LGGGFHCWTCDVRRRGTLQSYLD*

Gene Symbol:GATM
Accession:XM_047432386
Location:INTRON

Gene Symbol:GATM
Accession:XM_047432387
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000701431 CLINVAR
dbSNP (RS) rs1566843333 CLINVAR
MedGen C2675179 CLINVAR
NCBI Gene GATM CLINVAR
  LOC130056991 CLINVAR
OMIM 602360 CLINVAR
  612718 CLINVAR
SNOMED CT 702440000 CLINVAR