Variant Results

or

Results for "C8orf31"

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

C8orf31

80001102176

chr8:
144130667-144130667

T

C

exonic

De novo

stoploss

NM_173687

c.T397C

p.X133R

0.007

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

C8orf31

SP0081312

chr8:
144162500-144162500

C

A

intergenic

De novo

-

Fu2022 E
Zhou2022 GE

C8orf31

AU2156303

chr8:
144162298-144162298

G

A

intergenic

De novo

-

Yuen2017 G

C8orf31

13012.p1

Complex Event; expand row to view variants

De novo

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

C8orf31

10605

chr8:
144124515-144124515

G

A

intronic

De novo

-

4.945E-5

Satterstrom2020 E
Trost2022 G

C8orf31

mAGRE5010

chr8:
144126153-144126153

C

T

exonic

Maternal

stopgain

NM_173687

c.C274T

p.R92X

19.72

6.641E-5

Cirnigliaro2023 G

C8orf31

2-0149-004

chr8:
144122056-144122058

ATT

GCC

intronic

De novo

-

Trost2022 G

C8orf31

7-0215-003

chr8:
144127029-144127029

G

A

intronic

De novo

-

Yuen2017 G

C8orf31

7-0171-003

chr8:
144157654-144157654

C

T

intergenic

De novo

-

Yuen2017 G

C8orf31

2-0149-004

chr8:
144122066-144122069

ACCT

GCTGTTC

intronic

De novo

-

Trost2022 G

C8orf31

AU4092302

chr8:
144197673-144197673

G

A

intergenic

De novo

-

Yuen2017 G

C8orf31

SSC06471

chr8:
144126055-144126056

TC

T

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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