Variant Results

or

Results for "ZNF618"

Variant Events: 31

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

ZNF618

2-1759-003

chr9:
116806991-116806991

T

G

intronic

De novo

-

Trost2022 G

ZNF618

12445.p1

chr9:
116711060-116711060

A

G

intronic

De novo

-

Werling2018 G

ZNF618

REACH000026

chr9:
116816953-116816953

G

A

UTR3

De novo

-

Trost2022 G

ZNF618

MSSNG00247-003

chr9:
116804014-116804014

T

A

intronic

De novo

-

Trost2022 G

ZNF618

MSSNG00421-008

chr9:
116805675-116805675

A

G

intronic

De novo

-

Trost2022 G

ZNF618

SP0137976

chr9:
116770525-116770525

G

A

intronic

De novo

-

Trost2022 G

ZNF618

AU3903302

chr9:
116748902-116748902

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF618

G01-GEA-127-HI

chr9:
116811947-116811947

C

CT

exonic

De novo

frameshift insertion

NM_133374

c.2087dupT

p.L696fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZNF618

2-1552-003

chr9:
116775860-116775860

G

A

intronic

De novo

-

Trost2022 G

ZNF618

4-0075-003

chr9:
116755499-116755499

T

C

intronic

De novo

-

Trost2022 G

ZNF618

1-1133-003

chr9:
116768631-116768631

C

G

intronic

De novo

-

Trost2022 G

ZNF618

2-0068-003

chr9:
116808713-116808713

C

CTA

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF618

AU047904

chr9:
116782337-116782337

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF618

1-0279-004

chr9:
116676516-116676516

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF618

2-1376-003

chr9:
116772318-116772318

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZNF618

2-0202-003

chr9:
116729312-116729312

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF618

2-0011-004

chr9:
116669736-116669736

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF618

2-1167-003

chr9:
116746925-116746925

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZNF618

7-0251-003

chr9:
116797871-116797871

C

A

intronic

De novo

-

Yuen2017 G

ZNF618

AU066403

chr9:
116684536-116684536

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF618

AU2089302

chr9:
116667774-116667774

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF618

AU047704

chr9:
116703328-116703328

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF618

1-0088-003

chr9:
116811989-116811989

A

G

exonic

De novo

nonsynonymous SNV

NM_133374

c.A2128G

p.K710E

18.0

-

Trost2022 G
Zhou2022 GE

ZNF618

2-1548-003

chr9:
116707613-116707613

G

A

intronic

De novo

-

Trost2022 G

ZNF618

7-0353-003

chr9:
116745735-116745735

G

A

intronic

De novo

-

Trost2022 G

ZNF618

REACH000537

chr9:
116696781-116696781

G

A

intronic

De novo

-

Trost2022 G

ZNF618

AU058103

chr9:
116820921-116820921

G

A

intergenic

De novo

-

Yuen2017 G

ZNF618

SP0084489

chr9:
116769607-116769607

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

ZNF618

MT_86.3

chr9:
116702759-116702759

T

A

intronic

De novo

-

Trost2022 G

ZNF618

MSSNG00239-003

chr9:
116662953-116662953

C

G

intronic

De novo

-

Trost2022 G

ZNF618

MSSNG00360-004

chr9:
116682785-116682785

G

A

intronic

De novo

-

Trost2022 G

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 notes	View
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