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Results for "WDR81"

Variant Events: 21

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
WDR81     2-1317-003chr17:
1643303-1643303
CTintergenicDe novo--Yuen2017 G
WDR81     SP0043150chr17:
1630886-1630886
CTexonicDe novononsynonymous SNVNM_001163809c.C2633Tp.P878L14.094.993E-5Fu2022 E
Trost2022 G
Zhou2022 GE
WDR81     mAGRE1520chr17:
1631509-1631509
CTexonicMaternalstopgainNM_001163809
NM_152348
c.C3256T
c.C103T
p.Q1086X
p.Q35X
37.0-Cirnigliaro2023 G
WDR81     mAGRE1518chr17:
1631509-1631509
CTexonicMaternalstopgainNM_001163809
NM_152348
c.C3256T
c.C103T
p.Q1086X
p.Q35X
37.0-Cirnigliaro2023 G
WDR81     AU188Achr17:
1636104-1636104
GAexonicDe novononsynonymous SNVNM_001163673
NM_001163809
NM_001163811
NM_152348
c.G859A
c.G4468A
c.G787A
c.G1315A
p.V287M
p.V1490M
p.V263M
p.V439M
20.32.572E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
WDR81     Hu2022:36chr17:
1633670-1633670
GAintronicMaternal-5.024E-5Hu2022 T
WDR81     NDAR_INVLA204TKP_wes1chr17:
1636946-1636946
GAexonicDe novononsynonymous SNVNM_001163673
NM_001163809
NM_001163811
NM_152348
c.G1006A
c.G4615A
c.G934A
c.G1462A
p.G336R
p.G1539R
p.G312R
p.G488R
0.8621.0E-4DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
WDR81     UK10K_SKUSE5080165chr17:
1637187-1637187
CGexonicDe novononsynonymous SNVNM_001163673
NM_001163809
NM_001163811
NM_152348
c.C1247G
c.C4856G
c.C1175G
c.C1703G
p.A416G
p.A1619G
p.A392G
p.A568G
21.05.0E-4DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
WDR81     Hu2022:36chr17:
1636940-1636940
GAexonicPaternalnonsynonymous SNVNM_001163673
NM_001163809
NM_001163811
NM_152348
c.G1000A
c.G4609A
c.G928A
c.G1456A
p.G334S
p.G1537S
p.G310S
p.G486S
0.0165.298E-5Hu2022 T
WDR81     1-1195-003chr17:
1623946-1623946
GAintronicDe novo--Trost2022 G
WDR81     SP0224049chr17:
1630924-1630924
CTexonicDe novononsynonymous SNVNM_001163809c.C2671Tp.R891C10.079.726E-5Trost2022 G
WDR81     mAGRE2343chr17:
1638910-1638911
CTCexonicPaternalframeshift deletionNM_001163673
NM_001163809
NM_001163811
NM_152348
c.1616delT
c.5225delT
c.1544delT
c.2072delT
p.L539fs
p.L1742fs
p.L515fs
p.L691fs
-2.55E-5Cirnigliaro2023 G
WDR81     1-0756-003chr17:
1624217-1624217
GAintronicDe novo--Yuen2017 G
WDR81     iHART1518chr17:
1631509-1631509
CTexonicMaternalstopgainNM_001163809
NM_152348
c.C3256T
c.C103T
p.Q1086X
p.Q35X
37.0-Ruzzo2019 G
WDR81     SSC00558chr17:
1636897-1636897
CAexonicDe novononsynonymous SNVNM_001163673
NM_001163809
NM_001163811
NM_152348
c.C957A
c.C4566A
c.C885A
c.C1413A
p.S319R
p.S1522R
p.S295R
p.S471R
12.32-Fu2022 E
WDR81     SP0111258chr17:
1630364-1630364
ACexonicDe novononsynonymous SNVNM_001163809c.A2111Cp.N704T7.909-Trost2022 G
Zhou2022 GE
WDR81     37030chr17:
1628804-1628804
TGexonicDe novononsynonymous SNVNM_001163809c.T551Gp.V184G18.34-Fu2022 E
WDR81     iHART2343chr17:
1638910-1638911
CTCexonicPaternalframeshift deletionNM_001163673
NM_001163809
NM_001163811
NM_152348
c.1616delT
c.5225delT
c.1544delT
c.2072delT
p.L539fs
p.L1742fs
p.L515fs
p.L691fs
-2.55E-5Ruzzo2019 G
WDR81     iHART1520chr17:
1631509-1631509
CTexonicMaternalstopgainNM_001163809
NM_152348
c.C3256T
c.C103T
p.Q1086X
p.Q35X
37.0-Ruzzo2019 G
WDR81     AU3891303chr17:
1634586-1634586
GAintronicDe novo-1.059E-5Trost2022 G
Yuen2017 G
WDR81     Wang2023:115chr17:
1637164-1637164
CAexonicDe novononsynonymous SNVNM_001163673
NM_001163809
NM_001163811
NM_152348
c.C1224A
c.C4833A
c.C1152A
c.C1680A
p.H408Q
p.H1611Q
p.H384Q
p.H560Q
8.829-Wang2023 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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