Variant Results

or

Results for "KANSL1"

Variant Events: 28

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

KANSL1

AU4145303

chr17:
44106577-44106577

A

C

downstream

De novo

-

Yuen2017 G

KANSL1

AU3636301

chr17:
44214839-44214839

A

G

intronic

De novo

-

Yuen2017 G

KANSL1

AU3889305

chr17:
44317655-44317655

C

T

intergenic

De novo

-

Yuen2017 G

KANSL1

AU2019302

chr17:
44182938-44182938

G

A

intronic

De novo

-

Yuen2017 G

KANSL1

2-1459-003

chr17:
44324718-44324718

A

T

intergenic

De novo

-

Yuen2017 G

KANSL1

AU034904

chr17:
44154812-44154812

T

C

intronic

De novo

-

Yuen2017 G

KANSL1

AU050910

chr17:
44210236-44210236

G

A

intronic

De novo

-

Yuen2017 G

KANSL1

AU3636302

chr17:
44214839-44214839

A

G

intronic

De novo

-

Yuen2017 G

KANSL1

SF0083901.p1

chr17:
44143976-44143976

C

T

exonic

De novo

nonsynonymous SNV

NM_001193466
NM_015443
NM_001193465

c.G1775A
c.G1775A
c.G1775A

p.R592Q
p.R592Q
p.R592Q

27.8

-

Wang2020 T

KANSL1

388852

chr17:
44248783-44248783

G

A

exonic

Unknown

stopgain

NM_001193466
NM_015443
NM_001193465

c.C727T
c.C727T
c.C727T

p.Q243X
p.Q243X
p.Q243X

24.0

-

Wang2020 T
Wang2020 T
Wang2020 T

KANSL1

AU4056302

chr17:
44114401-44114405

CAGAG

CAG

intronic

De novo

-

Yuen2017 G

KANSL1

81015992

chr17:
44108859-44108859

G

A

exonic

Unknown

nonsynonymous SNV

NM_001193466
NM_015443
NM_001193465

c.C3301T
c.C3301T
c.C3298T

p.R1101C
p.R1101C
p.R1100C

23.0

-

Wang2020 T
Wang2020 T

KANSL1

11305.p1

chr17:
44248781-44248781

T

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001193466
NM_015443
NM_001193465

c.A729C
c.A729C
c.A729C

p.Q243H
p.Q243H
p.Q243H

15.5

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T

KANSL1

2-1567-004

chr17:
44339600-44339600

G

GCCA

intergenic

De novo

-

Yuen2017 G

KANSL1

PN400286

chr17:
44111564-44111564

C

T

exonic

Unknown

nonsynonymous SNV

NM_001193466
NM_015443
NM_001193465

c.G2629A
c.G2629A
c.G2626A

p.V877I
p.V877I
p.V876I

23.3

-

Leblond2019 E

KANSL1

388846

chr17:
44248783-44248783

G

A

exonic

Unknown

stopgain

NM_001193466
NM_015443
NM_001193465

c.C727T
c.C727T
c.C727T

p.Q243X
p.Q243X
p.Q243X

24.0

-

Wang2020 T
Wang2020 T

KANSL1

HEN0092.p1

chr17:
44109484-44109484

G

A

exonic

Paternal

nonsynonymous SNV

NM_001193466
NM_015443
NM_001193465

c.C3019T
c.C3019T
c.C3016T

p.R1007W
p.R1007W
p.R1006W

27.3

-

Wang2020 T
Wang2020 T

KANSL1

AU2075302

chr17:
44192839-44192839

G

A

intronic

De novo

-

Yuen2017 G

KANSL1

1-0755-003

chr17:
44318359-44318359

C

T

intergenic

De novo

-

Yuen2017 G

KANSL1

AU4093302

chr17:
44131831-44131831

C

A

intronic

De novo

-

Yuen2017 G

KANSL1

64634058

chr17:
44109642-44109642

C

T

exonic

Unknown

nonsynonymous SNV

NM_001193466
NM_015443
NM_001193465

c.G2861A
c.G2861A
c.G2858A

p.R954Q
p.R954Q
p.R953Q

34.0

9.395E-6

Wang2020 T
Wang2020 T

KANSL1

V6E2E

chr17:
44128048-44128048

C

T

exonic

Unknown

nonsynonymous SNV

NM_001193466
NM_015443
NM_001193465

c.G1871A
c.G1871A
c.G1871A

p.R624H
p.R624H
p.R624H

27.2

8.41E-6

Wang2020 T
Wang2020 T

KANSL1

AU3806304

chr17:
44245107-44245110

CAAT

C

intronic

De novo

-

Yuen2017 G

KANSL1

211-5356-3

chr17:
44108939-44108939

C

T

exonic

Unknown

nonsynonymous SNV

NM_001193466
NM_015443
NM_001193465

c.G3221A
c.G3221A
c.G3218A

p.R1074Q
p.R1074Q
p.R1073Q

21.6

8.484E-6

Wang2020 T
Wang2020 T

KANSL1

2-1361-003

chr17:
44362230-44362230

C

T

intergenic

De novo

-

Yuen2017 G

KANSL1

1-0541-003

chr17:
44241879-44241879

T

C

intronic

De novo

-

Yuen2017 G

KANSL1

U3V4P

chr17:
44171936-44171936

C

T

exonic

Unknown

nonsynonymous SNV

NM_001193466
NM_015443
NM_001193465

c.G1421A
c.G1421A
c.G1421A

p.R474H
p.R474H
p.R474H

28.3

1.648E-5

Wang2020 T
Wang2020 T

KANSL1

2-1368-003

chr17:
44309552-44309552

C

T

intergenic

De novo

-

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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