RGD:8659638 Rat Genome Database

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Variant: RGD:8659638 -  Homo sapiens

RGD ID: 8659638
RS ID: rs1288775
ClinVar ID: CV134584
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATM  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 45,661,678
GRCh38 15 45,369,480
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
NC_000015.10:g.45369480T>A
NC_000015.9:g.45661678T>A
NP_001473.1:p.Gln110His
P50440:p.Gln110His
More... 		08/10/2021 5 prime utr variant|missense|missense variant benign|likely benign|conflicting interpretations of pathogenicity infancy <1 / 1 000 000 AGAT deficiency; AllHighlyPenetrant; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY; De Toni-Fanconi syndrome; FRTS1; GATM DEFICIENCY; L-Arginine:Glycine Amidinotransferase Deficiency; LUDER-SHELDON SYNDROME; Neonatal De Toni-Debre-Fanconi syndrome; none provided; Toni-Debre-Fanconi syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATM
Accession:XM_047432388
Location:5UTRS;EXON

Gene Symbol:GATM
Accession:NM_001321015
Location:5UTRS;EXON

Gene Symbol:GATM
Accession:NM_001482
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIV
GRAENACVPPFTIEVKANTYEKYWPFYQKHGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFES
TGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAA
QGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNP
DRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANS
LGGGFHCWTCDVRRRGTLQSYLD*

Gene Symbol:GATM
Accession:XM_047432385
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRGAAGAERGYKRPRAPRARPPRSGRALGKAWTDAAQRPGTFRAWTSRARAMLRVRCLRGGSRGAEAVHYIGSRLGRT
LTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFY
QKHGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWR
SRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFA
QRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPD
DHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD*

Gene Symbol:GATM
Accession:XM_047432386
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFVFKKLTEVLFRRSTSLAALSTLRESDLRGGCILLLGLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDC
PVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKHGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRP
DPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYN
QDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHI
DATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFE
KLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD*

Gene Symbol:GATM
Accession:XM_047432387
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFVFKKLTEVLFRRSTSLAALSTLRESDLRGGCILLLGLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDC
PVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKHGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRP
DPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYN
QDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHI
DATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFE
KLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000117125 CLINVAR
  RCV000312436 CLINVAR
  RCV000711747 CLINVAR
  RCV001701669 CLINVAR
  RCV002312115 CLINVAR
dbSNP (RS) rs1288775 CLINVAR
MedGen C0950123 CLINVAR
  C2675179 CLINVAR
  C3661900 CLINVAR
  C4551503 CLINVAR
  CN169374 CLINVAR
NCBI Gene GATM CLINVAR
OMIM 134600 CLINVAR
  602360 CLINVAR
  612718 CLINVAR
SNOMED CT 702440000 CLINVAR