Variant Results

or

Results for "C7orf26"

Variant Events: 11

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

C7orf26

iHART2342

chr7:
6641772-6641772

G

T

splicing

Paternal

splicing

25.1

-

Ruzzo2019 G

C7orf26

SP0125546

chr7:
6647714-6647714

C

CCCCCCCCCCCCCCCG

exonic

De novo

nonframeshift insertion

NM_024067
NM_001303039

c.1272_1273insCCCCCCCCCCCCCCG
c.981_982insCCCCCCCCCCCCCCG

p.A424delinsAPPPPP
p.A327delinsAPPPPP

-

Fu2022 E

C7orf26

592-05-104390

chr7:
6639943-6639943

C

T

exonic

De novo

nonsynonymous SNV

NM_024067
NM_001303039

c.C1064T
c.C773T

p.A355V
p.A258V

30.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

C7orf26

SP0052047

chr7:
6647908-6647908

G

C

UTR3

De novo

-

Fu2022 E
Trost2022 G

C7orf26

11456.p1

chr7:
6641199-6641199

T

A

intronic

De novo

-

Turner2016 G

C7orf26

ASC_18A072

chr7:
6634074-6634074

C

T

exonic

De novo

synonymous SNV

NM_001303039
NM_024067

c.C366T
c.C423T

p.P122P
p.P141P

-

8.239E-6

Fu2022 E

C7orf26

12902.p1

chr7:
6647619-6647619

G

A

exonic

nonsynonymous SNV

NM_024067
NM_001303039

c.G1177A
c.G886A

p.V393M
p.V296M

19.32

8.85E-6

Zhou2022 GE

C7orf26

SP0140084

chr7:
6634211-6634211

C

T

exonic

De novo

nonsynonymous SNV

NM_001303039
NM_024067

c.C503T
c.C560T

p.A168V
p.A187V

15.74

8.0E-4

Trost2022 G

C7orf26

SP0160967

chr7:
6631304-6631304

C

T

exonic

De novo

nonsynonymous SNV

NM_024067

c.C220T

p.L74F

27.5

-

Trost2022 G

C7orf26

Cukier2014:17245

chr7:
6631481-6631481

G

T

exonic

Unknown

nonsynonymous SNV

NM_001303039
NM_024067

c.G340T
c.G397T

p.A114S
p.A133S

27.7

-

Cukier2014 E

C7orf26

mAGRE2342

chr7:
6641772-6641772

G

T

splicing

Paternal

splicing

25.1

-

Cirnigliaro2023 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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