Variant Results

or

or

Results for "C16orf62"

Variant Events: 26

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

C16orf62

2-1243-003

chr16:
19667441-19667446

GCAGTT

CCGGGC

intronic

De novo

-

-

Trost2022 G

C16orf62

MSSNG00421-005

chr16:
19672567-19672567

A

G

intronic

De novo

-

-

Trost2022 G

C16orf62

3-0059-000

chr16:
19661668-19661668

G

A

intronic

De novo

-

Trost2022 G

C16orf62

MSSNG00040-004

chr16:
19667360-19667360

G

A

intronic

De novo

-

-

Trost2022 G

C16orf62

2-1519-006

chr16:
19645859-19645859

A

G

intronic

De novo

-

-

Trost2022 G

C16orf62

1-1055-003

chr16:
19660391-19660391

A

G

intronic

De novo

-

-

Trost2022 G

C16orf62

MT_167.3

chr16:
19636897-19636897

G

A

intronic

De novo

-

-

Trost2022 G

C16orf62

MSSNG00227-003

chr16:
19641381-19641382

AT

A

intronic

De novo

-

-

Trost2022 G

C16orf62

3-0368-000

chr16:
19708523-19708523

C

T

intronic

De novo

-

-

Trost2022 G

C16orf62

MSSNG00122-003

chr16:
19691078-19691078

C

T

intronic

De novo

-

-

Trost2022 G

C16orf62

REACH000229

chr16:
19702397-19702397

T

C

intronic

De novo

-

-

Trost2022 G

C16orf62

iHART2102

chr16:
19663379-19663379

C

T

exonic

Maternal

stopgain

NM_001300743
NM_020314

c.C2176T
c.C2455T

p.Q726X
p.Q819X

39.0

Ruzzo2019 G

C16orf62

REACH000714

chr16:
19684377-19684377

C

T

intronic

De novo

-

-

Trost2022 G

C16orf62

AU3768302

chr16:
19668447-19668447

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C16orf62

MSSNG00088-003

chr16:
19689786-19689786

C

T

intronic

De novo

-

-

Trost2022 G

C16orf62

7-0100-003

chr16:
19654607-19654607

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C16orf62

AU2863302

chr16:
19663046-19663046

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C16orf62

SSC06920

chr16:
19567064-19567064

C

T

exonic

De novo

nonsynonymous SNV

NM_001300743
NM_020314

c.C280T
c.C280T

p.P94S
p.P94S

15.98

-

Fu2022 E
Lim2017 E
Trost2022 G

C16orf62

2-1466-003

chr16:
19660241-19660241

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G

C16orf62

AU0255-0201

chr16:
19566848-19566848

G

A

exonic

De novo

nonsynonymous SNV

NM_001300743
NM_020314

c.G64A
c.G64A

p.A22T
p.A22T

16.39

-

Fu2022 E

C16orf62

AU072905

chr16:
19584697-19584697

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C16orf62

mAGRE2102

chr16:
19663379-19663379

C

T

exonic

Maternal

stopgain

NM_001300743
NM_020314

c.C2176T
c.C2455T

p.Q726X
p.Q819X

39.0

Cirnigliaro2023 G

C16orf62

AU062204

chr16:
19597152-19597152

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C16orf62

2-1112-003

chr16:
19673696-19673696

G

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

C16orf62

REACH000569

chr16:
19626390-19626390

C

T

intronic

De novo

-

-

Trost2022 G

C16orf62

13324.p1

chr16:
19567064-19567064

C

T

exonic

De novo

nonsynonymous SNV

NM_001300743
NM_020314

c.C280T
c.C280T

p.P94S
p.P94S

15.98

-

Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
Turner2016 G
Zhou2022 GE

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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