Variant Results

or

Results for "CCDC77"

Variant Events: 13

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

CCDC77

MSSNG00213-003

chr12:
504970-504970

G

C

intronic

De novo

-

Trost2022 G

CCDC77

7-0141-003

chr12:
508631-508631

C

T

intronic

De novo

-

Trost2022 G

CCDC77

AU056005

chr12:
531405-531417

CTGTGTGTGTGTG

CTGTGTGTG

intronic

De novo

-

Yuen2017 G

CCDC77

Chen2017:34

chr12:
551033-551035

AAG

A

exonic

De novo

frameshift deletion

NM_001130148
NM_001130146
NM_001130147
NM_032358

c.1319_1320del
c.1319_1320del
c.1319_1320del
c.1415_1416del

p.K440fs
p.K440fs
p.K440fs
p.K472fs

-

Chen2017 E

CCDC77

2-1195-003

chr12:
530881-530881

T

A

intronic

De novo

-

Yuen2017 G

CCDC77

4-0111-003

chr12:
539746-539746

T

TGTTC

intronic

De novo

-

Trost2022 G

CCDC77

2-1097-003

chr12:
540215-540217

CAG

C

intronic

De novo

-

Trost2022 G

CCDC77

200675435_1082034256

chr12:
551033-551035

AAG

A

exonic

De novo

frameshift deletion

NM_001130148
NM_001130146
NM_001130147
NM_032358

c.1319_1320del
c.1319_1320del
c.1319_1320del
c.1415_1416del

p.K440fs
p.K440fs
p.K440fs
p.K472fs

-

Fu2022 E

CCDC77

2-1317-003

chr12:
530252-530252

C

T

intronic

De novo

-

Trost2022 G

CCDC77

REACH000086

chr12:
538369-538369

G

T

intronic

De novo

-

Trost2022 G

CCDC77

AU3124304

chr12:
510851-510851

G

T

splicing

Maternal

splicing

-

Cirnigliaro2023 G

CCDC77

AU3124302

chr12:
510851-510851

G

T

splicing

Maternal

splicing

-

Cirnigliaro2023 G

CCDC77

AU3636301

chr12:
545226-545226

C

T

intronic

De novo

-

Trost2022 G
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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