Variant Results

or

or

Results for "CCDC88C"

Variant Events: 20

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

CCDC88C

13322.p1

chr14:
91755418-91755418

A

AC

intronic

De novo

-

-

Satterstrom2020 E

CCDC88C

JASD_Fam0030

chr14:
91766302-91766302

C

T

exonic

De novo

nonsynonymous SNV

NM_001080414

c.G3748A

p.E1250K

35.0

Takata2018 E

CCDC88C

1-0969-003

chr14:
91758185-91758185

C

T

intronic

De novo

-

-

Yuen2017 G

CCDC88C

AU4013302

chr14:
91903083-91903083

G

A

intergenic

De novo

-

-

Yuen2017 G

CCDC88C

217-14225-3590

chr14:
91763804-91763804

C

T

exonic

Unknown

nonsynonymous SNV

NM_001080414

c.G3811A

p.E1271K

27.9

Stessman2017 T

CCDC88C

211-5300-3

chr14:
91763807-91763807

C

A

exonic

Unknown

nonsynonymous SNV

NM_001080414

c.G3808T

p.G1270W

14.58

Stessman2017 T

CCDC88C

11377.p1

chr14:
91744403-91744403

G

C

exonic

De novo

nonsynonymous SNV

NM_001080414

c.C4921G

p.L1641V

0.035

-

Krumm2015 E
Wilfert2021 G

CCDC88C

2-1417-003

chr14:
91887872-91887872

G

A

intergenic

De novo

-

-

Yuen2017 G

CCDC88C

1-0590-003

chr14:
91808170-91808170

G

A

intronic

De novo

-

-

Yuen2017 G

CCDC88C

AU3808304

chr14:
91785628-91785628

T

A

intronic

De novo

-

-

Yuen2017 G

CCDC88C

28_15au

chr14:
91739299-91739299

G

A

exonic

De novo

synonymous SNV

NM_001080414

c.C5757T

p.G1919G

-

Fu2022 E

CCDC88C

SSC05893

chr14:
91772130-91772130

C

G

exonic

De novo

nonsynonymous SNV

NM_001080414

c.G3336C

p.Q1112H

11.64

-

Fu2022 E
Lim2017 E

CCDC88C

AU4234303

chr14:
91866816-91866816

C

T

intronic

De novo

-

-

Yuen2017 G

CCDC88C

M31992

chr14:
91805671-91805671

C

T

exonic

Maternal

nonsynonymous SNV

NM_001080414

c.G760A

p.V254I

31.0

Guo2018 T

CCDC88C

GX0441.p1

chr14:
91770115-91770115

T

C

exonic

Maternal

nonsynonymous SNV

NM_001080414

c.A3565G

p.I1189V

31.0

-

Guo2018 T

CCDC88C

M03093

chr14:
91808741-91808741

C

T

exonic

Maternal

nonsynonymous SNV

NM_001080414

c.G466A

p.V156M

32.0

Guo2018 T
Wang2016 T

CCDC88C

12901.p1

chr14:
91772130-91772130

C

G

exonic

De novo

nonsynonymous SNV

NM_001080414

c.G3336C

p.Q1112H

11.64

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

CCDC88C

M21544

chr14:
91804464-91804464

C

T

exonic

Maternal

nonsynonymous SNV

NM_001080414

c.G935A

p.R312Q

32.0

Guo2018 T
Wang2016 T

CCDC88C

PN400391

chr14:
91739935-91739935

T

TG

exonic

Unknown

frameshift insertion

NM_001080414

c.5120dupC

p.P1707fs

-

Leblond2019 E

CCDC88C

2-1107-003

chr14:
91739420-91739420

C

T

exonic

Maternal

nonsynonymous SNV

NM_001080414

c.G5636A

p.R1879Q

25.0

-

Yuen2016 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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