Variant Results

or

or

Results for "CLTCL1"

Variant Events: 14

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

CLTCL1

14144.p1

chr22:
19245355-19245355

G

A

intronic

De novo

12.79

-

Wilfert2021 G

CLTCL1

Codina-Sola2015:ASD_21

chr22:
19241669-19241669

C

G

exonic

Paternal

nonsynonymous SNV

NM_001835
NM_007098

c.G332C
c.G332C

p.W111S
p.W111S

21.7

Codina-Sola2015 E

CLTCL1

2-0242-005

chr22:
19288412-19288412

A

ACTT

intergenic

De novo

-

-

Yuen2017 G

CLTCL1

Codina-Sola2015:ASD_13

chr22:
19241666-19241666

T

G

exonic

Paternal

nonsynonymous SNV

NM_001835
NM_007098

c.A335C
c.A335C

p.K112T
p.K112T

17.78

-

Codina-Sola2015 E

CLTCL1

5-0017-004

chr22:
19178757-19178757

G

C

intronic

De novo

-

-

Yuen2017 G

CLTCL1

iHART3252

chr22:
19183845-19183845

C

CA

exonic

Paternal

frameshift insertion

NM_001835
NM_007098

c.4122dupT
c.4122dupT

p.V1375fs
p.V1375fs

-

Ruzzo2019 G

CLTCL1

iHART3256

chr22:
19183845-19183845

C

CA

exonic

Paternal

frameshift insertion

NM_001835
NM_007098

c.4122dupT
c.4122dupT

p.V1375fs
p.V1375fs

-

Ruzzo2019 G

CLTCL1

80001100770

chr22:
19175215-19175215

T

C

exonic

De novo

nonsynonymous SNV

NM_007098

c.A4460G

p.Y1487C

13.58

Fu2022 E

CLTCL1

AU3888302

chr22:
19273580-19273580

C

A

intronic

De novo

-

-

Yuen2017 G

CLTCL1

iHART3272

chr22:
19263287-19263287

A

AT

exonic

Paternal

frameshift insertion

NM_001835
NM_007098

c.108_109insA
c.108_109insA

p.F37fs
p.F37fs

-

-

Ruzzo2019 G

CLTCL1

AU1987301

chr22:
19184972-19184972

C

T

intronic

De novo

-

-

Yuen2017 G

CLTCL1

SP0077915

chr22:
19184163-19184163

C

T

exonic

De novo

nonsynonymous SNV

NM_001835
NM_007098

c.G3878A
c.G3878A

p.R1293H
p.R1293H

9.13

-

Fu2022 E

CLTCL1

SP0081042

chr22:
19175188-19175188

G

C

exonic

De novo

nonsynonymous SNV

NM_007098

c.C4487G

p.A1496G

20.5

-

Fu2022 E

CLTCL1

PN400326

chr22:
19241533-19241533

G

C

exonic

Unknown

stopgain

NM_001835
NM_007098

c.C468G
c.C468G

p.Y156X
p.Y156X

10.55

-

Leblond2019 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
Curation notes	View
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