Variant Results

or

Results for "KANK1"

Variant Events: 45

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

KANK1

11108.p1

chr9:
712508-712508

G

A

exonic

De novo

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.G1268A
c.G1742A
c.G1742A
c.G1742A

p.C423Y
p.C581Y
p.C581Y
p.C581Y

13.37

8.241E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

KANK1

7-0356-003

chr9:
712256-712256

C

T

exonic

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.C1016T
c.C1490T
c.C1490T
c.C1490T

p.S339L
p.S497L
p.S497L
p.S497L

17.29

8.279E-6

Zhou2022 GE

KANK1

2-1318-004

chr9:
484310-484310

C

G

intronic

De novo

-

Yuen2017 G

KANK1

2-1318-004

chr9:
480696-480696

C

T

intronic

De novo

-

Yuen2017 G

KANK1

1395_17au

chr9:
711983-711983

A

G

exonic

De novo

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.A743G
c.A1217G
c.A1217G
c.A1217G

p.E248G
p.E406G
p.E406G
p.E406G

15.06

8.238E-6

Fu2022 E

KANK1

2-1318-004

chr9:
478899-478899

C

T

intronic

De novo

-

Yuen2017 G

KANK1

Hu2022:31

chr9:
712617-712618

GA

G

exonic

Unknown

frameshift deletion

NM_153186
NM_015158
NM_001256877
NM_001256876

c.1378delA
c.1852delA
c.1852delA
c.1852delA

p.T460fs
p.T618fs
p.T618fs
p.T618fs

-

Hu2022 T

KANK1

2-1093-009

chr9:
723832-723832

C

T

intronic

De novo

-

Yuen2017 G

KANK1

PN400321

chr9:
738322-738322

G

A

exonic

Unknown

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.G2897A
c.G3371A
c.G3371A
c.G3371A

p.R966H
p.R1124H
p.R1124H
p.R1124H

34.0

6.0E-4

Leblond2019 E

KANK1

MT_160

chr9:
742297-742297

G

C

exonic

Maternal

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.G3315C
c.G3789C
c.G3789C
c.G3789C

p.Q1105H
p.Q1263H
p.Q1263H
p.Q1263H

23.7

-

Toma2013 E

KANK1

1-0126-003

chr9:
741434-741434

T

C

intronic

De novo

-

Yuen2017 G

KANK1

PN400508

chr9:
738322-738322

G

A

exonic

Unknown

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.G2897A
c.G3371A
c.G3371A
c.G3371A

p.R966H
p.R1124H
p.R1124H
p.R1124H

34.0

6.0E-4

Leblond2019 E

KANK1

GM173276

chr9:
712277-712277

C

G

exonic

De novo

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.C1037G
c.C1511G
c.C1511G
c.C1511G

p.A346G
p.A504G
p.A504G
p.A504G

10.12

-

Fu2022 E

KANK1

1-0469-005

chr9:
629021-629021

G

C

intronic

De novo

-

Yuen2017 G

KANK1

2-1093-009

chr9:
752147-752147

C

G

intergenic

De novo

-

Yuen2017 G

KANK1

2-1093-009

chr9:
745997-745997

G

C

UTR3

De novo

-

Yuen2017 G

KANK1

3-0436-000

chr9:
638097-638097

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KANK1

2-0006-004

chr9:
752690-752690

G

A

intergenic

De novo

-

Yuen2017 G

KANK1

2-1170-003

chr9:
700179-700179

T

G

intronic

De novo

-

Yuen2017 G

KANK1

1-0203-003

chr9:
772037-772037

G

A

intergenic

De novo

-

Yuen2017 G

KANK1

AU066404

chr9:
553503-553503

C

T

intronic

De novo

-

Yuen2017 G

KANK1

SSC00803

chr9:
712508-712508

G

A

exonic

De novo

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.G1268A
c.G1742A
c.G1742A
c.G1742A

p.C423Y
p.C581Y
p.C581Y
p.C581Y

13.37

8.241E-6

Fu2022 E
Lim2017 E
Trost2022 G

KANK1

iHART3132

chr9:
730250-730250

T

G

splicing

Maternal

splicing

20.4

1.654E-5

Ruzzo2019 G

KANK1

PN400215

chr9:
738322-738322

G

A

exonic

Unknown

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.G2897A
c.G3371A
c.G3371A
c.G3371A

p.R966H
p.R1124H
p.R1124H
p.R1124H

34.0

6.0E-4

Leblond2019 E

KANK1

PN400371

chr9:
742245-742245

G

A

exonic

Unknown

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.G3263A
c.G3737A
c.G3737A
c.G3737A

p.R1088Q
p.R1246Q
p.R1246Q
p.R1246Q

26.9

-

Leblond2019 E

KANK1

7-0249-003

chr9:
501567-501567

T

C

intronic

De novo

-

Yuen2017 G

KANK1

2-1207-003

chr9:
650055-650055

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KANK1

AU3646301

chr9:
730250-730250

T

G

splicing

Maternal

splicing

20.4

1.654E-5

Cirnigliaro2023 G

KANK1

PN400341

chr9:
742245-742245

G

A

exonic

Unknown

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.G3263A
c.G3737A
c.G3737A
c.G3737A

p.R1088Q
p.R1246Q
p.R1246Q
p.R1246Q

26.9

-

Leblond2019 E

KANK1

AU3586303

chr9:
585738-585738

G

A

intronic

De novo

-

Yuen2017 G

KANK1

1-0484-003

chr9:
700872-700876

GAACA

G

intronic

De novo

-

Yuen2017 G

KANK1

1-0559-003

chr9:
764294-764294

A

G

intergenic

De novo

-

Yuen2017 G

KANK1

AU1988301

chr9:
598636-598651

TTTTTTTTTTTTTTTG

T

intronic

De novo

-

Yuen2017 G

KANK1

AU2072302

chr9:
824581-824581

T

A

intergenic

De novo

-

Yuen2017 G

KANK1

AU2072302

chr9:
827128-827128

G

C

intergenic

De novo

-

Yuen2017 G

KANK1

AU2072302

chr9:
837245-837245

C

A

intergenic

De novo

-

Yuen2017 G

KANK1

AU4359301

chr9:
681017-681017

C

G

intronic

De novo

-

Yuen2017 G

KANK1

AU050604

chr9:
681866-681866

T

C

intronic

De novo

-

Yuen2017 G

KANK1

80001103406

chr9:
734797-734797

A

G

exonic

De novo

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.A2821G
c.A3295G
c.A3295G
c.A3295G

p.T941A
p.T1099A
p.T1099A
p.T1099A

16.2

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KANK1

1-0261-004

chr9:
594375-594375

G

A

intronic

De novo

-

Yuen2017 G

KANK1

2-1318-004

chr9:
471334-471334

C

G

intronic

De novo

-

Yuen2017 G

KANK1

PN400534

chr9:
738322-738322

G

A

exonic

Unknown

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.G2897A
c.G3371A
c.G3371A
c.G3371A

p.R966H
p.R1124H
p.R1124H
p.R1124H

34.0

6.0E-4

Leblond2019 E

KANK1

PN400115

chr9:
738322-738322

G

A

exonic

Unknown

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.G2897A
c.G3371A
c.G3371A
c.G3371A

p.R966H
p.R1124H
p.R1124H
p.R1124H

34.0

6.0E-4

Leblond2019 E

KANK1

SP0036560

chr9:
713053-713053

C

A

exonic

De novo

nonsynonymous SNV

NM_153186
NM_015158
NM_001256877
NM_001256876

c.C1813A
c.C2287A
c.C2287A
c.C2287A

p.Q605K
p.Q763K
p.Q763K
p.Q763K

17.0

-

Fu2022 E
Zhou2022 GE

KANK1

2-0013-003

chr9:
549949-549949

A

G

intronic

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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