Variant Results

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Results for "CEP131"

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

CEP131

12607.p1

chr17:
79170813-79170813

A

ACCCCAGCTCCAGGGG

exonic

De novo

nonframeshift insertion

NM_001009811
NM_014984

c.1689_1690insCCCCTGGAGCTGGGG
c.1689_1690insCCCCTGGAGCTGGGG

p.S564delinsPLELGS
p.S564delinsPLELGS

-

-

Satterstrom2020 E

CEP131

EGAN00001100956

chr17:
79177417-79177417

C

A

intronic

De novo

-

-

Satterstrom2020 E

CEP131

MT_109

chr17:
79171545-79171545

C

G

exonic

Paternal

nonsynonymous SNV

NM_001009811
NM_014984

c.G1614C
c.G1614C

p.K538N
p.K538N

17.01

-

Toma2013 E

CEP131

2-0149-005

chr17:
79197956-79197956

C

T

intergenic

De novo

-

-

Yuen2017 G

CEP131

iHART1076

chr17:
79176103-79176103

T

TCC

exonic

Paternal

frameshift insertion

NM_001009811
NM_014984

c.724_725insGG
c.724_725insGG

p.N242fs
p.N242fs

-

-

Ruzzo2019 G

CEP131

SP0123146

chr17:
79167909-79167909

T

C

exonic

De novo

nonsynonymous SNV

NM_001009811
NM_014984

c.A2138G
c.A2138G

p.Q713R
p.Q713R

24.0

Fu2022 E

CEP131

SP0013377

chr17:
79166284-79166284

G

A

exonic

De novo

nonsynonymous SNV

NM_001009811
NM_014984

c.C2431T
c.C2539T

p.R811W
p.R847W

14.91

Fu2022 E

CEP131

iHART1075

chr17:
79176103-79176103

T

TCC

exonic

Paternal

frameshift insertion

NM_001009811
NM_014984

c.724_725insGG
c.724_725insGG

p.N242fs
p.N242fs

-

-

Ruzzo2019 G

CEP131

iHART1220

chr17:
79163601-79163601

G

A

exonic

Maternal

stopgain

NM_001009811
NM_014984

c.C3103T
c.C3211T

p.Q1035X
p.Q1071X

18.78

Ruzzo2019 G

CEP131

SP0074146

chr17:
79176019-79176019

C

G

intronic

De novo

-

Fu2022 E

CEP131

2-1206-003

chr17:
79165137-79165143

TGGGGGG

TGGGGG

intronic

De novo

-

-

Yuen2017 G

CEP131

08C75470

chr17:
79165137-79165138

TG

T

intronic

De novo

-

-

Fu2022 E
Satterstrom2020 E

CEP131

GEA354

chr17:
79170788-79170788

C

T

exonic

De novo

nonsynonymous SNV

NM_001009811
NM_014984

c.G1715A
c.G1715A

p.R572Q
p.R572Q

17.89

Fu2022 E

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
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