RGD:156359467 Rat Genome Database

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Variant: RGD:156359467 -  Homo sapiens

RGD ID: 156359467
ClinVar ID: CV1904239
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WRAP53  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 7,592,992
GRCh38 17 7,689,674
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_375t1:c.615G>C
NM_001143990.2:c.615G>C
NM_001143991.2:c.615G>C
NM_001143992.2:c.615G>C
More... 		10/20/2022 missense variant uncertain significance none provided

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

Gene Symbol:WRAP53
Accession:NM_001143991
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE
TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS
WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHDGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK
KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS
GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS
GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:WRAP53
Accession:NM_018081
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE
TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS
WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHDGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK
KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS
GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS
GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:WRAP53
Accession:NM_001143990
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE
TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS
WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHDGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK
KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS
GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS
GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:WRAP53
Accession:NM_001143992
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE
TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS
WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHDGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK
KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS
GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS
GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE
TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS
WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHDGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYTGVSVSMSLSAWPAAAGRTRFISGTHSLESSGLPFAPTTTWMS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002581627 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene WRAP53 CLINVAR
OMIM 612661 CLINVAR