Variant Results

or

or

Results for "ZNF277"

Variant Events: 15

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

ZNF277

SP0079387

chr7:
111967815-111967815

A

G

exonic

nonsynonymous SNV

NM_021994

c.A601G

p.I201V

10.5

-

Zhou2022 GE

ZNF277

2C385

chr7:
111967856-111967856

G

T

exonic

De novo

nonsynonymous SNV

NM_021994

c.G642T

p.L214F

19.79

-

Fu2022 E

ZNF277

mAGRE2985

chr7:
111958329-111958329

G

T

splicing

Paternal

splicing

17.67

-

Cirnigliaro2023 G

ZNF277

4-0056-003

chr7:
111927940-111927940

A

C

intronic

De novo

-

-

Trost2022 G

ZNF277

7-0250-003A

chr7:
111946345-111946345

C

A

intronic

De novo

-

-

Trost2022 G

ZNF277

5-1007-003

chr7:
111861107-111861118

AGACCCGCCGCT

A

intronic

De novo

-

-

Trost2022 G

ZNF277

2-1763-003

chr7:
111869892-111869892

G

A

intronic

De novo

-

-

Trost2022 G

ZNF277

AU058104

chr7:
111851555-111851555

C

A

intronic

De novo

-

-

Yuen2017 G

ZNF277

iHART2985

chr7:
111958329-111958329

G

T

splicing

Paternal

splicing

17.67

-

Ruzzo2019 G

ZNF277

SP0083156

chr7:
111926921-111926922

AT

A

intronic

De novo

-

Fu2022 E
Trost2022 G

ZNF277

2-1170-003

chr7:
111995682-111995686

CTCTT

C

intergenic

De novo

-

-

Yuen2017 G

ZNF277

7-0250-003

chr7:
111946345-111946345

C

A

intronic

De novo

-

-

Yuen2017 G

ZNF277

14642.p1

chr7:
111914099-111914099

T

G

intronic

De novo

-

-

Turner2016 G

ZNF277

AU061104

chr7:
112005885-112005885

C

T

intergenic

De novo

-

-

Yuen2017 G

ZNF277

A13

chr7:
112038621-112038621

T

C

intergenic

De novo

-

-

Wu2018 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