RGD:8568231 Rat Genome Database

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Variant: RGD:8568231 -  Homo sapiens

RGD ID: 8568231
RS ID: rs1574785867
ClinVar ID: CV39222
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WIPF1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 175,432,630
GRCh38 2 174,567,902
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
NM_001375839.1:c.923C>G
NM_001077269.1:c.1301C>G
NM_003387.5:c.1301C>G
NG_032009.1:g.119998C>G
More... 		02/10/2015 nonsense pathogenic neonatal/infancy 1-9 / 1 000 000 WIPF1 DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WIPF1
Accession:XM_047445755
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:NM_001375839
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDIPSTPRPIQSSPHNRGSPPV
PGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPLSSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPP
PQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPPLPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPP
PPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQLPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPC
EDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLARNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:NM_001375832
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:XM_047445751
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:XM_047445749
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:NM_003387
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:XM_047445750
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:NM_001375833
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:NM_001077269
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:XM_047445757
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:XM_047445752
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:XM_047445753
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:NM_001375835
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPRPPKQAAE*

Gene Symbol:WIPF1
Accession:XM_047445756
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:NM_001375834
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:XM_047445754
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGKKLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGF
GGGGGGGGGGSFGGGGPPGLGGLFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSPHNRGSPPVPGGPRQPSPGPTPPPFPGNRGTALGGGSIRQSPL
SSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPSIHREAVPPPPPQNNKPPVPSTPRPSASSQAPPPPPPPSRPGPPP
LPPSSSGNDETPRLPQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTSRALPATPQ
LPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPP*TSIRNGFQDSPCEDEWESRFYFHPISDLPPPEPYVQTTKSYPSKLA
RNESRSGSNRRERGAPPLPPIPR*

Gene Symbol:WIPF1
Accession:NM_001375837
Location:INTRON

Gene Symbol:WIPF1
Accession:NM_001375836
Location:INTRON

Gene Symbol:WIPF1
Accession:NM_001375838
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:22231303  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023193 CLINVAR
dbSNP (RS) rs1574785867 CLINVAR
MedGen C3281001 CLINVAR
NCBI Gene WIPF1 CLINVAR
OMIM 602357 CLINVAR
  614493 CLINVAR
OMIM Allele 602357.0001 CLINVAR