Variant Results

or

Results for "SLX4"

Variant Events: 18

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

SLX4

12219.p1

chr16:
3641020-3641020

G

A

exonic

Mosaic

synonymous SNV

NM_032444

c.C2619T

p.A873A

-

2.471E-5

Dou2017 E

SLX4

13697_p1

chr16:
3644492-3644492

A

G

exonic

De novo

nonsynonymous SNV

NM_032444

c.T2122C

p.F708L

23.4

-

Fu2022 E

SLX4

Lim2017:35874

chr16:
3640983-3640983

C

G

exonic

De novo

nonsynonymous SNV

NM_032444

c.G2656C

p.V886L

11.59

-

Lim2017 E

SLX4

SP0110282

chr16:
3642738-3642738

A

G

exonic

De novo

synonymous SNV

NM_032444

c.T2289C

p.P763P

-

Fu2022 E

SLX4

Codina-Sola2015:ASD_26

chr16:
3647643-3647643

G

A

exonic

Paternal

stopgain

NM_032444

c.C1420T

p.Q474X

42.0

-

Codina-Sola2015 E

SLX4

SP0028274

chr16:
3640502-3640502

C

T

exonic

De novo

nonsynonymous SNV

NM_032444

c.G3137A

p.R1046H

7.103

-

Fu2022 E

SLX4

SP0102469

chr16:
3638931-3638931

T

G

intronic

De novo

-

Fu2022 E

SLX4

SP0122073

chr16:
3633536-3633536

A

C

intronic

De novo

-

Fu2022 E

SLX4

35874

chr16:
3640983-3640983

C

G

exonic

De novo

nonsynonymous SNV

NM_032444

c.G2656C

p.V886L

11.59

-

Fu2022 E

SLX4

11677.p1

chr16:
3640983-3640983

C

G

exonic

De novo

nonsynonymous SNV

NM_032444

c.G2656C

p.V886L

11.59

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

SLX4

152167

chr16:
3658463-3658463

G

C

exonic

De novo

nonsynonymous SNV

NM_032444

c.C503G

p.P168R

9.876

-

Fu2022 E

SLX4

13697.p1

chr16:
3644492-3644492

A

G

exonic

De novo

nonsynonymous SNV

NM_032444

c.T2122C

p.F708L

23.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

SLX4

SP0021315

chr16:
3642781-3642781

C

A

exonic

De novo

nonsynonymous SNV

NM_032444

c.G2246T

p.R749L

5.156

-

Fu2022 E

SLX4

1-0552-003

chr16:
3650409-3650409

G

A

intronic

De novo

-

Yuen2017 G

SLX4

2-1417-003

chr16:
3667656-3667656

G

C

intergenic

De novo

-

Yuen2017 G

SLX4

iHART2215

chr16:
3640478-3640478

G

T

exonic

Paternal

stopgain

NM_032444

c.C3161A

p.S1054X

44.0

-

Ruzzo2019 G

SLX4

2-1291-003

chr16:
3650465-3650486

CCAGAGCCTTCCAGAATGCAGA

CCAGA

intronic

De novo

-

Yuen2017 G

SLX4

AU4308302

chr16:
3640924-3640924

C

T

exonic

De novo

synonymous SNV

NM_032444

c.G2715A

p.E905E

-

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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