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Results for "WDHD1"

Variant Events: 25

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
WDHD1     mAGRE2222chr14:
55454070-55454070		GCexonicPaternalstopgainNM_001008396
NM_007086		c.C1193G
c.C1562G		p.S398X
p.S521X		41.0-Cirnigliaro2023 G
WDHD1     mAGRE2219chr14:
55454070-55454070		GCexonicPaternalstopgainNM_001008396
NM_007086		c.C1193G
c.C1562G		p.S398X
p.S521X		41.0-Cirnigliaro2023 G
WDHD1     mAGRE1034chr14:
55434063-55434064		CACexonicPaternalframeshift deletionNM_001008396
NM_007086		c.1743delT
c.2112delT		p.P581fs
p.P704fs		--Cirnigliaro2023 G
WDHD1     mAGRE2472chr14:
55429761-55429761		CAexonicPaternalstopgainNM_001008396
NM_007086		c.G2071T
c.G2440T		p.E691X
p.E814X		42.0-Cirnigliaro2023 G
WDHD1     SP0106153chr14:
55408389-55408389		TGexonicDe novononsynonymous SNVNM_001008396
NM_007086		c.A2840C
c.A3209C		p.K947T
p.K1070T		12.21-Fu2022 E
Trost2022 G
Zhou2022 GE
WDHD1     5-5119-003chr14:
55465387-55465387		CGintronicDe novo--Trost2022 G
WDHD1     SP0016996chr14:
55455737-55455737		TGintronicDe novo--Fu2022 E
WDHD1     7-0387-003chr14:
55411963-55411963		TCintronicDe novo--Trost2022 G
WDHD1     SP0044860chr14:
55433381-55433381		GAintronicDe novo--Fu2022 E
WDHD1     1-0616-003chr14:
55415908-55415908		GAintronicDe novo--Trost2022 G
WDHD1     1-0126-004chr14:
55486245-55486245		CTintronicDe novo--Trost2022 G
Yuen2017 G
WDHD1     DEASD_0157_001chr14:
55477154-55477154		AGexonicDe novononsynonymous SNVNM_007086c.T214Cp.S72P23.8-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
WDHD1     1-0272-003chr14:
55443070-55443070		GAintronicDe novo--Trost2022 G
Yuen2017 G
WDHD1     2-0704-003chr14:
55453400-55453400		TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
WDHD1     7-0273-003chr14:
55423492-55423492		ACintronicDe novo--Trost2022 G
Yuen2017 G
WDHD1     iHART1034chr14:
55434063-55434064		CACexonicPaternalframeshift deletionNM_001008396
NM_007086		c.1743delT
c.2112delT		p.P581fs
p.P704fs		--Ruzzo2019 G
WDHD1     mAGRE2565chr14:
55411082-55411082		GAexonicPaternalstopgainNM_001008396
NM_007086		c.C2788T
c.C3157T		p.R930X
p.R1053X		42.01.0E-4Cirnigliaro2023 G
WDHD1     iHART2472chr14:
55429761-55429761		CAexonicPaternalstopgainNM_001008396
NM_007086		c.G2071T
c.G2440T		p.E691X
p.E814X		42.0-Ruzzo2019 G
WDHD1     mAGRE2564chr14:
55411082-55411082		GAexonicPaternalstopgainNM_001008396
NM_007086		c.C2788T
c.C3157T		p.R930X
p.R1053X		42.01.0E-4Cirnigliaro2023 G
WDHD1     iHART2219chr14:
55454070-55454070		GCexonicPaternalstopgainNM_001008396
NM_007086		c.C1193G
c.C1562G		p.S398X
p.S521X		41.0-Ruzzo2019 G
WDHD1     200675569_1082034990chr14:
55493744-55493744		ACsplicingDe novosplicing--Fu2022 E
WDHD1     iHART2222chr14:
55454070-55454070		GCexonicPaternalstopgainNM_001008396
NM_007086		c.C1193G
c.C1562G		p.S398X
p.S521X		41.0-Ruzzo2019 G
WDHD1     AU2089302chr14:
55480789-55480789		GAintronicDe novo--Trost2022 G
Yuen2017 G
WDHD1     iHART2564chr14:
55411082-55411082		GAexonicPaternalstopgainNM_001008396
NM_007086		c.C2788T
c.C3157T		p.R930X
p.R1053X		42.01.0E-4Ruzzo2019 G
WDHD1     iHART2565chr14:
55411082-55411082		GAexonicPaternalstopgainNM_001008396
NM_007086		c.C2788T
c.C3157T		p.R930X
p.R1053X		42.01.0E-4Ruzzo2019 G
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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