Variant Results

or

Results for "ZKSCAN5"

Variant Events: 12

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

ZKSCAN5

09C99485

chr7:
99123456-99123456

A

G

exonic

De novo

nonsynonymous SNV

NM_014569
NM_145102

c.A793G
c.A793G

p.M265V
p.M265V

8.153

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZKSCAN5

AU05304

chr7:
99128899-99128899

T

C

exonic

De novo

nonsynonymous SNV

NM_014569
NM_145102

c.T1547C
c.T1547C

p.I516T
p.I516T

1.397

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZKSCAN5

SP0099287

chr7:
99123521-99123521

C

T

exonic

De novo

synonymous SNV

NM_014569
NM_145102

c.C858T
c.C858T

p.T286T
p.T286T

-

8.238E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

ZKSCAN5

2-0088-003

chr7:
99114481-99114481

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZKSCAN5

Wang2023:799

chr7:
99129141-99129141

C

T

exonic

De novo

nonsynonymous SNV

NM_014569
NM_145102

c.C1789T
c.C1789T

p.R597C
p.R597C

19.14

-

Wang2023 E

ZKSCAN5

mAGRE5087

chr7:
99102784-99102784

G

A

splicing

Paternal

splicing

-

Cirnigliaro2023 G

ZKSCAN5

mAGRE5086

chr7:
99102784-99102784

G

A

splicing

Paternal

splicing

-

Cirnigliaro2023 G

ZKSCAN5

1-0401-003

chr7:
99131569-99131569

G

GGCGACCTGC

downstream

De novo

-

Trost2022 G
Yuen2017 G

ZKSCAN5

AU2227301

chr7:
99120962-99120962

C

T

intronic

De novo

-

Trost2022 G

ZKSCAN5

AU2227301

chr7:
99122794-99122794

A

G

intronic

De novo

-

Trost2022 G

ZKSCAN5

7-0303-003

chr7:
99107806-99107806

G

A

intronic

De novo

-

Trost2022 G

ZKSCAN5

MSSNG00017-003

chr7:
99112541-99112541

A

G

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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