Variant Results

or

Results for "ZNF90"

Variant Events: 19

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

ZNF90

2-1416-004

chr19:
20273771-20273771

A

G

intergenic

De novo

-

Yuen2017 G

ZNF90

A18

chr19:
20254255-20254255

G

A

intergenic

De novo

-

Wu2018 G

ZNF90

AU3794301

chr19:
20211860-20211860

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF90

1-1024-003

chr19:
20218872-20218872

C

A

intronic

De novo

-

Trost2022 G

ZNF90

SSC02938

chr19:
20229093-20229093

C

T

exonic

De novo

nonsynonymous SNV

NM_007138

c.C730T

p.L244F

10.29

-

Trost2022 G

ZNF90

2-0116-004

chr19:
20235477-20235477

T

A

intergenic

De novo

-

Yuen2017 G

ZNF90

11470.p1

chr19:
20229093-20229093

C

T

exonic

De novo

nonsynonymous SNV

NM_007138

c.C730T

p.L244F

10.29

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

ZNF90

mAGRE6026

chr19:
20229800-20229802

ACT

A

exonic

Maternal

frameshift deletion

NM_007138

c.1438_1439del

p.L480fs

-

Cirnigliaro2023 G

ZNF90

mAGRE1573

chr19:
20215166-20215170

TCTTC

T

exonic

Paternal

frameshift deletion

NM_007138

c.123_126del

p.V41fs

-

8.32E-6

Cirnigliaro2023 G

ZNF90

2-1383-003

chr19:
20224075-20224075

A

C

intronic

De novo

-

Yuen2017 G

ZNF90

1-0010-005

chr19:
20273771-20273771

A

G

intergenic

De novo

-

Yuen2017 G

ZNF90

iHART1573

chr19:
20215166-20215170

TCTTC

T

exonic

Paternal

frameshift deletion

NM_007138

c.123_126del

p.V41fs

-

8.32E-6

Ruzzo2019 G

ZNF90

2-1337-003

chr19:
20267389-20267389

C

T

intergenic

De novo

-

Yuen2017 G

ZNF90

SP0061928

chr19:
20229289-20229373

AAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTTCAAGCTCTCCTCAATCCTTAGTACACATAAGAGAATCCATACTGG

A

exonic

De novo

nonframeshift deletion

NM_007138

c.927_1010del

p.309_337del

-

Fu2022 E

ZNF90

AU049304

chr19:
20233714-20233715

CT

C

intergenic

De novo

-

Yuen2017 G

ZNF90

AU2463301

chr19:
20213944-20213944

C

T

intronic

De novo

-

Trost2022 G

ZNF90

5-0009-003

chr19:
20216823-20216823

A

G

intronic

De novo

-

Trost2022 G

ZNF90

1-0446-003

chr19:
20272466-20272466

C

G

intergenic

De novo

-

Yuen2017 G

ZNF90

7-0095-003

chr19:
20273771-20273771

A

G

intergenic

De novo

-

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
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