RGD:401897720 Rat Genome Database

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Variant: RGD:401897720 -  Homo sapiens

RGD ID: 401897720
ClinVar ID: CV2772865
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127888507  SIRT7  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 79,875,510
GRCh38 17 81,917,634
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016538.3:c.317C>G
NG_139432.1:g.374G>C
NC_000017.11:g.81917634G>C
NC_000017.10:g.79875510G>C
More... 		07/05/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SIRT7
Accession:NM_016538
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGGLSRSERKAAERVRRLREEQQRERLRQVSRILRKAAAERSAEEGRLLAESADLVTELQGRSRRREGLKRRQEEVCD
DPEELRGKVRELASAVRNAKYLVVYRGAGISTAASIPDYRGPNGVWTLLQKGRSVSAADLSEAEPTLTHMSITRLHEQKL
VQHVVSQNCDGLHLRSGLPRTAISELHGNMYIEVCTSCVPNREYVRVFDVTERTALHRHQTGRTCHKCGTQLRDTIVHFG
ERGTLGQPLNWEAATEAASRADTILCLGSSLKVLKKYPRLWCMTKPPSRRPKLYIVNLQWTPKDDWAALKLHGKCDDVMR
LLMAELGLEIPAYSRWQDPIFSLATPLRAGEEGSHSRKSLCRSREEAPPGDRGAPLSSAPILGGWFGRGCTKRTKRKKVT
*

Gene Symbol:SIRT7
Accession:XM_047436231
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGGLSRSERKAAERVRRLREEQQRERLRQVSRILRKAAAERSAEEGRLLAESADLVTELQGRSRRREGLKRRQEEVCD
DPEELRGKVRELASAVRNAKYLVVYRGAGISTAASIPDYRGPNGVWTLLQKGRSVSAADLSEAEPTLTHMSITRLHEQKL
VQHVVSQNCDGLHLRSGLPRTAISELHGNMYIETPDRPDLPQVWDPAAGHHCALWGEGDVGAAFELGSGDRGCQQSRHHP
VSRVQPEGSKEVPTPLVHDQAP*

Gene Symbol:SIRT7
Accession:XM_047436230
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGGLSRSERKAAERVRRLREEQQRERLRQVSRILRKAAAERSAEEGRLLAESADLVTELQGRSRRREGLKRRQEEVCD
DPEELRGKVRELASAVRNAKYLVVYRGAGISTAASIPDYRGPNGVWTLLQKGRSVSAADLSEAEPTLTHMSITRLHEQKL
VQHVVSQNCDGLHLRSGLPRTAISELHGNMYIEGVRAGVRCDGAHCPPQTPDRPDLPQVWDPAAGHHCALWGEGDVGAAF
ELGSGDRGCQQSRHHPVSRVQPEGSKEVPTPLVHDQAP*

Gene Symbol:SIRT7
Accession:XM_011523580
Location:INTRON

Gene Symbol:SIRT7
Accession:XM_047436229
Location:INTRON

Gene Symbol:SIRT7
Accession:XM_047436228
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003375890 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SIRT7 CLINVAR
OMIM 606212 CLINVAR