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Results for "ZZEF1"

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
ZZEF1     SP0093070chr17:
4045987-4045987
GCexonicDe novononsynonymous SNVNM_015113c.C203Gp.P68R18.583.506E-5Fu2022 E
ZZEF1     SP0036020chr17:
3954077-3954077
TCexonicDe novononsynonymous SNVNM_015113c.A5861Gp.K1954R16.77-Fu2022 E
ZZEF1     1-0006-003chr17:
3930319-3930319
AGintronicDe novo--Yuen2017 G
ZZEF1     SP0010751chr17:
3924614-3924614
TAexonicDe novononsynonymous SNVNM_015113c.A7213Tp.I2405F25.6-Fu2022 E
ZZEF1     1-0464-003chr17:
3968928-3968928
CTintronicDe novo--Yuen2017 G
ZZEF1     SP0056567chr17:
3945693-3945693
CTintronicDe novo--Fu2022 E
ZZEF1     SP0043505chr17:
3912207-3912207
CTexonicDe novosynonymous SNVNM_015113c.G8775Ap.T2925T--Fu2022 E
ZZEF1     SP0013216chr17:
4016141-4016141
GCintronicDe novo--Fu2022 E
ZZEF1     SP0010114chr17:
3976103-3976103
GAintronicDe novo--Fu2022 E
ZZEF1     AU2023302chr17:
3969471-3969471
ACintronicDe novo--Yuen2017 G
ZZEF1     118_15mrchr17:
4027261-4027261
TCexonicDe novononsynonymous SNVNM_015113c.A439Gp.N147D21.6-Fu2022 E
Satterstrom2020 E
ZZEF1     GM182008chr17:
3985888-3985888
TCintronicDe novo--Fu2022 E
ZZEF1     PN400489chr17:
3970467-3970467
CTexonicUnknownnonsynonymous SNVNM_015113c.G4145Ap.R1382Q32.02.0E-4Leblond2019 E
ZZEF1     200675779@1082034642chr17:
3978572-3978572
CTexonicDe novononsynonymous SNVNM_015113c.G3386Ap.C1129Y26.2-Satterstrom2020 E
ZZEF1     SSC12895chr17:
3917418-3917418
GAexonicDe novosynonymous SNVNM_015113c.C8379Tp.T2793T-8.264E-6Fu2022 E
Lim2017 E
ZZEF1     2-1335-004chr17:
3938648-3938648
TCintronicDe novo--Yuen2017 G
ZZEF1     ASC_CA_150_Achr17:
3989932-3989932
ACexonicDe novononsynonymous SNVNM_015113c.T2360Gp.V787G14.19-Fu2022 E
Satterstrom2020 E
ZZEF1     ASC_2J789-9A138chr17:
3967647-3967647
GAintronicDe novo-6.33E-5Fu2022 E
ZZEF1     13515.p1chr17:
4025526-4025526
GCintronicDe novo--Turner2016 G
ZZEF1     200675779_1082034642chr17:
3978572-3978572
CTexonicDe novononsynonymous SNVNM_015113c.G3386Ap.C1129Y26.2-Fu2022 E
ZZEF1     2-0240-004chr17:
3917940-3917940
GCintronicDe novo--Yuen2017 G
ZZEF1     14682.p1chr17:
3917418-3917418
GAexonicDe novo, Mosaicsynonymous SNVNM_015113c.C8379Tp.T2793T-8.264E-6Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ZZEF1     Chen2017:40chr17:
3978572-3978572
CTexonicDe novononsynonymous SNVNM_015113c.G3386Ap.C1129Y26.2-Chen2017 E
ZZEF1     1-0458-004chr17:
3920792-3920792
GAexonicDe novononsynonymous SNVNM_015113c.C7874Tp.S2625F15.17-Yuen2015 G
Yuen2017 G
ZZEF1     AU3840302chr17:
3932201-3932201
TCintronicDe novo--Yuen2017 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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