Variant Results

or

or

Results for "ZNF335"

Variant Events: 20

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

ZNF335

mAGRE4440

chr20:
44581303-44581307

GTCAC

G

exonic

Maternal

frameshift deletion

NM_022095

c.2744_2747del

p.S915fs

-

Cirnigliaro2023 G

ZNF335

mAGRE4439

chr20:
44581303-44581307

GTCAC

G

exonic

Maternal

frameshift deletion

NM_022095

c.2744_2747del

p.S915fs

-

Cirnigliaro2023 G

ZNF335

2-1168-003

chr20:
44600299-44600299

T

C

intronic

De novo

-

-

Yuen2016 G

ZNF335

mAGRE4268

chr20:
44578950-44578950

T

TG

exonic

Maternal

frameshift insertion

NM_022095

c.3394_3395insC

p.K1132fs

-

Cirnigliaro2023 G

ZNF335

mAGRE4264

chr20:
44578950-44578950

T

TG

exonic

Paternal

frameshift insertion

NM_022095

c.3394_3395insC

p.K1132fs

-

Cirnigliaro2023 G

ZNF335

1-1233-003

chr20:
44595606-44595606

T

G

intronic

De novo

-

-

Trost2022 G

ZNF335

11301_p1

chr20:
44582508-44582508

G

A

exonic

De novo

nonsynonymous SNV

NM_022095

c.C2522T

p.P841L

15.13

-

Fu2022 E

ZNF335

SP0061642

chr20:
44594175-44594175

C

T

intronic

De novo

-

-

Trost2022 G

ZNF335

SP0044120

chr20:
44578138-44578138

C

T

exonic

De novo

nonsynonymous SNV

NM_022095

c.G3739A

p.G1247S

23.3

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF335

11301.p1

chr20:
44582508-44582508

G

A

exonic

De novo

nonsynonymous SNV

NM_022095

c.C2522T

p.P841L

15.13

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

ZNF335

SP0049129

chr20:
44577680-44577680

A

G

exonic

De novo

nonsynonymous SNV

NM_022095

c.T3941C

p.F1314S

13.12

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF335

A12

chr20:
44596570-44596570

C

T

exonic

De novo

nonsynonymous SNV

NM_022095

c.G617A

p.C206Y

16.58

Wu2018 G

ZNF335

2-1605-003

chr20:
44605306-44605306

C

G

intergenic

De novo

-

-

Yuen2017 G

ZNF335

A23

chr20:
44596231-44596231

C

T

exonic

De novo

nonsynonymous SNV

NM_022095

c.G857A

p.R286Q

17.8

Wu2018 G

ZNF335

SP0070035

chr20:
44589483-44589483

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ZNF335

A10

chr20:
44596394-44596394

G

A

exonic

De novo

nonsynonymous SNV

NM_022095

c.C793T

p.R265W

21.1

Wu2018 G

ZNF335

54666147613-C

chr20:
44588059-44588059

G

A

exonic

De novo

synonymous SNV

NM_022095

c.C2034T

p.F678F

-

Fu2022 E

ZNF335

A10

chr20:
44580824-44580824

C

T

exonic

De novo

nonsynonymous SNV

NM_022095

c.G3151A

p.D1051N

26.6

-

Wu2018 G

ZNF335

7-0223-003

chr20:
44579416-44579416

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNF335

AU3703302

chr20:
44580693-44580693

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 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
	More