RGD:11545612 Rat Genome Database

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Variant: RGD:11545612 -  Homo sapiens

RGD ID: 11545612
RS ID: rs34067256
ClinVar ID: CV256466
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WRAP53  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 7,592,373
GRCh38 17 7,689,055
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_375:g.7985C>G
NG_028245.1:g.7985C>G
NC_000017.11:g.7689055C>G
NC_000017.10:g.7592373C>G
More... 		12/26/2018 2kb upstream variant|missense variant benign|likely benign AllHighlyPenetrant; none provided; Sarcoma family syndrome of Li and Fraumeni
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WRAP53
Accession:NM_001143991
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE
TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGERAAEDEGDTAWNYSFSQLPRFLSGS
WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK
KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS
GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS
GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:WRAP53
Accession:NM_018081
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE
TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGERAAEDEGDTAWNYSFSQLPRFLSGS
WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK
KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS
GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS
GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:WRAP53
Accession:NM_001143992
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE
TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGERAAEDEGDTAWNYSFSQLPRFLSGS
WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK
KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS
GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS
GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:WRAP53
Accession:NM_001143990
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE
TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGERAAEDEGDTAWNYSFSQLPRFLSGS
WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK
KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS
GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS
GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE
TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGERAAEDEGDTAWNYSFSQLPRFLSGS
WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYTGVSVSMSLSAWPAAAGRTRFISGTHSLESSGLPFAPTTTWMS*

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000245377 CLINVAR
  RCV000261887 CLINVAR
  RCV000373750 CLINVAR
  RCV000891035 CLINVAR
  RCV001123317 CLINVAR
dbSNP (RS) rs34067256 CLINVAR
MedGen C0085390 CLINVAR
  C3151442 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN239315 CLINVAR
NCBI Gene TP53 CLINVAR
  WRAP53 CLINVAR
OMIM 191170 CLINVAR
  612661 CLINVAR
  613988 CLINVAR
SNOMED CT 428850001 CLINVAR