Variant Results

or

Results for "XKR6"

Variant Events: 55

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

XKR6

1-0019-004

chr8:
10833609-10833609

C

T

intronic

De novo

-

Yuen2017 G

XKR6

2-1277-003

chr8:
10782002-10782002

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

13393.p1

chr8:
10984792-10984792

C

T

intronic

De novo

-

Turner2016 G

XKR6

1-0373-003

chr8:
10853476-10853476

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

2-1719-003

chr8:
10976428-10976428

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

11415_p1

chr8:
10755512-10755512

G

A

exonic

De novo

stopgain

NM_173683

c.C1876T

p.R626X

24.3

-

Fu2022 E

XKR6

5-0147-003

chr8:
10756507-10756507

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

2-1173-003

chr8:
11105553-11105553

T

C

intergenic

De novo

-

Yuen2017 G

XKR6

MSSNG00452-003

chr8:
10845981-10845981

C

T

intronic

De novo

-

Trost2022 G

XKR6

7-0331-003

chr8:
10856844-10856844

G

A

intronic

De novo

-

Trost2022 G

XKR6

2-1594-003

chr8:
10941208-10941208

G

T

intronic

De novo

-

Yuen2017 G

XKR6

1-0945-003

chr8:
10818748-10818748

A

G

intronic

De novo

-

Trost2022 G

XKR6

AU4465303

chr8:
11039540-11039540

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

2-1366-003

chr8:
11099019-11099019

C

CCTTTGCCTT

intergenic

De novo

-

Yuen2017 G

XKR6

5-5159-003

chr8:
10991750-10991750

C

CA

intronic

De novo

-

Trost2022 G

XKR6

3-0116-001

chr8:
10994977-10994977

C

T

intronic

De novo

-

8.0E-4

Trost2022 G

XKR6

2-1278-003

chr8:
11052260-11052260

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

XKR6

5-0134-003

chr8:
10935990-10935990

G

C

intronic

De novo

-

Trost2022 G

XKR6

5-5046-007

chr8:
10939422-10939422

G

A

intronic

De novo

-

Trost2022 G

XKR6

7-0405-004

chr8:
10897939-10897939

G

A

intronic

De novo

-

Trost2022 G

XKR6

5-0134-003

chr8:
10934596-10934596

G

A

intronic

De novo

-

Trost2022 G

XKR6

7-0416-003

chr8:
10872475-10872475

A

G

intronic

De novo

-

Trost2022 G

XKR6

1-0483-004

chr8:
10872523-10872523

C

G

intronic

De novo

-

Trost2022 G

XKR6

2-1261-004

chr8:
11057153-11057153

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

H3E8D_01

chr8:
11057487-11057487

A

T

intronic

De novo

-

Trost2022 G

XKR6

H3E8D_01

chr8:
11037091-11037091

C

G

intronic

De novo

-

Trost2022 G

XKR6

2-1209-003

chr8:
11049671-11049671

A

T

intronic

De novo

-

Trost2022 G

XKR6

2-1089-003

chr8:
10886803-10886803

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

2-1753-003

chr8:
10999852-10999852

C

T

intronic

De novo

-

Trost2022 G

XKR6

REACH000336

chr8:
11016992-11016992

C

T

intronic

De novo

-

Trost2022 G

XKR6

14322.p1

chr8:
11052689-11052689

C

G

intronic

8.793

-

Zhou2022 GE

XKR6

1-0556-003

chr8:
11132792-11132808

AAGAGAGAGAGAGAGAG

AAGAGAGAGAGAGAG

intergenic

De novo

-

Yuen2017 G

XKR6

2-0503-004

chr8:
10766193-10766193

C

A

intronic

De novo

-

Yuen2017 G

XKR6

7-0082-003

chr8:
10773643-10773643

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

1-0636-003

chr8:
11046421-11046421

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

SP0083559

chr8:
10755507-10755507

G

A

exonic

De novo

synonymous SNV

NM_173683

c.C1881T

p.D627D

2.627

1.698E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

XKR6

AU4093304

chr8:
11004820-11004820

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

A15

chr8:
11086477-11086477

A

T

intergenic

De novo

-

Wu2018 G

XKR6

AU058105

chr8:
10995876-10995876

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

AU3053302

chr8:
10918465-10918465

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

AU4378301

chr8:
10969583-10969583

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

2-1427-003

chr8:
10897362-10897362

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

11415.p1

chr8:
10755512-10755512

G

A

exonic

De novo

stopgain

NM_173683

c.C1876T

p.R626X

24.3

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

XKR6

1-0186-004

chr8:
10904236-10904236

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

1-0186-004

chr8:
10862291-10862291

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

1-0384-003

chr8:
11046550-11046550

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

AU4479301

chr8:
10808570-10808570

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

2-1375-003

chr8:
10972457-10972457

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

XKR6

AU2381302

chr8:
10978272-10978272

T

C

intronic

De novo

-

Yuen2017 G

XKR6

2-0503-003

chr8:
10766193-10766193

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

SSC02216

chr8:
10755512-10755512

G

A

exonic

stopgain

NM_173683

c.C1876T

p.R626X

24.3

-

Antaki2022 GE

XKR6

AU4462302

chr8:
10914071-10914071

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

AU2756306

chr8:
10930647-10930647

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

2-1335-003

chr8:
11040014-11040014

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XKR6

2-1129-003

chr8:
10807187-10807187

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
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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