or
or
Exact

Results for "ZNF608"

Variant Events: 33

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
ZNF608     2-0102-004chr5:
124322292-124322292
CTintergenicDe novo--Yuen2017 G
ZNF608     2-0214-004chr5:
124108708-124108708
GAintergenicDe novo--Yuen2017 G
ZNF608     PN400455chr5:
123980084-123980084
GAexonicUnknownnonsynonymous SNVNM_020747c.C3976Tp.R1326W19.091.647E-5Leblond2019 E
ZNF608     A10chr5:
124043355-124043355
GAintronicDe novo--Wu2018 G
ZNF608     1-0358-003chr5:
124174802-124174802
AGintergenicDe novo--Yuen2017 G
ZNF608     AU3517302chr5:
124174609-124174609
CTintergenicDe novo--Yuen2017 G
ZNF608     AU3852301chr5:
123977976-123977976
CTintronicDe novo--Yuen2017 G
ZNF608     2-1644-004chr5:
124073082-124073082
CTintronicDe novo--Yuen2017 G
ZNF608     AU2437302chr5:
124188699-124188699
AGintergenicDe novo--Yuen2017 G
ZNF608     2-1425-004chr5:
124298360-124298360
GAintergenicDe novo--Yuen2017 G
ZNF608     14590.p1chr5:
124260150-124260150
GAintergenicDe novo--Turner2016 G
ZNF608     13951.p1chr5:
124038971-124038971
GAintronicDe novo--Turner2016 G
ZNF608     A19chr5:
124298389-124298389
GAintergenicDe novo--Wu2018 G
ZNF608     2-1306-004chr5:
124083213-124083213
TCintergenicDe novo--Yuen2017 G
ZNF608     2-0126-004chr5:
124278261-124278261
AGintergenicDe novo--Yuen2017 G
ZNF608     2-0323-003chr5:
124318212-124318212
CCCTintergenicDe novo--Yuen2017 G
ZNF608     08C78655chr5:
124036714-124036715
TGTexonicDe novoframeshift deletionNM_020747c.1154delCp.T385fs--Fu2022 E
Satterstrom2020 E
ZNF608     PN400171chr5:
123980084-123980084
GAexonicUnknownnonsynonymous SNVNM_020747c.C3976Tp.R1326W19.091.647E-5Leblond2019 E
ZNF608     AU2022302chr5:
124259646-124259646
GTintergenicDe novo--Yuen2017 G
ZNF608     AU072005chr5:
124231081-124231081
CAintergenicDe novo--Yuen2017 G
ZNF608     AU2162302chr5:
124239227-124239227
GTintergenicDe novo--Yuen2017 G
ZNF608     1-0353-003chr5:
124058237-124058240
GTGAGintronicDe novo--Yuen2017 G
ZNF608     3-0209-000chr5:
124022110-124022110
TCintronicDe novo--Yuen2017 G
ZNF608     AU3703302chr5:
124048053-124048053
CTintronicDe novo--Yuen2017 G
ZNF608     AU4211304chr5:
124097401-124097401
CTintergenicDe novo--Yuen2017 G
ZNF608     AU2433302chr5:
124129459-124129459
AGintergenicDe novo--Yuen2017 G
ZNF608     PN400108chr5:
123980084-123980084
GAexonicUnknownnonsynonymous SNVNM_020747c.C3976Tp.R1326W19.091.647E-5Leblond2019 E
ZNF608     AU3724301chr5:
124211867-124211867
AGintergenicDe novo--Yuen2017 G
ZNF608     2-1306-003chr5:
124083213-124083213
TCintergenicDe novo--Yuen2017 G
ZNF608     AU4410302chr5:
124297638-124297638
CTintergenicDe novo--Yuen2017 G
ZNF608     PN400170chr5:
123980084-123980084
GAexonicUnknownnonsynonymous SNVNM_020747c.C3976Tp.R1326W19.091.647E-5Leblond2019 E
ZNF608     AU4079302chr5:
124183575-124183582
TATTAATTTATTintergenicDe novo--Yuen2017 G
ZNF608     SP0038315chr5:
124080539-124080539
AGexonicDe novosynonymous SNVNM_020747c.T144Cp.F48F--Fu2022 E
Source Variant Information

, -

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
More