Variant Results

or

Results for "KALRN"

Variant Events: 33

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

KALRN

2-0129-004

chr3:
123853923-123853923

C

T

intronic

De novo

-

Yuen2017 G

KALRN

AU4468301

chr3:
123984995-123984995

C

T

intronic

De novo

-

Yuen2017 G

KALRN

5-0003-004

chr3:
124159877-124159877

A

T

intronic

De novo

-

Yuen2017 G

KALRN

1-0303-004

chr3:
123828512-123828512

G

GACATATATATC

intronic

De novo

-

Yuen2017 G

KALRN

5-0099-003

chr3:
124186775-124186775

G

A

intronic

De novo

-

Yuen2017 G

KALRN

2-0295-004

chr3:
124337762-124337762

C

A

intronic

De novo

-

Yuen2017 G

KALRN

2-0198-003

chr3:
124066642-124066662

GGTTGAATGTGCCCAGAGAAC

G

intronic

De novo

-

Yuen2017 G

KALRN

1-0384-003

chr3:
124196354-124196354

T

C

intronic

De novo

-

Yuen2017 G

KALRN

AU050910

chr3:
124400842-124400842

C

T

intronic

De novo

-

Yuen2017 G

KALRN

2-0145-004

chr3:
124027378-124027378

G

A

intronic

De novo

-

Yuen2017 G

KALRN

AU0780302

chr3:
124153589-124153589

T

A

intronic

De novo

-

Yuen2017 G

KALRN

1-0985-003

chr3:
124105081-124105081

A

G

intronic

De novo

-

Yuen2017 G

KALRN

2-1497-003

chr3:
124114482-124114482

T

C

intronic

De novo

-

Yuen2017 G

KALRN

13008.p1

chr3:
124281800-124281800

C

T

exonic

De novo

synonymous SNV

NM_001024660

c.C5040T

p.S1680S

9.481

5.027E-5

Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

KALRN

11229.p1

chr3:
124385248-124385248

T

TC

intronic

De novo

-

Satterstrom2020 E

KALRN

2-1353-003

chr3:
124004933-124004933

T

C

intronic

De novo

-

Yuen2017 G

KALRN

2-1361-003

chr3:
124085592-124085592

C

T

intronic

De novo

-

Yuen2017 G

KALRN

1-0104-004

chr3:
123828512-123828512

G

GACATATATATC

intronic

De novo

-

Yuen2017 G

KALRN

5007

chr3:
124281800-124281800

C

T

exonic

De novo

synonymous SNV

NM_001024660

c.C5040T

p.S1680S

9.481

5.027E-5

Fu2022 E

KALRN

TRE_959

chr3:
124351411-124351411

C

T

exonic

De novo

nonsynonymous SNV

NM_007064
NM_001024660

c.C230T
c.C5321T

p.P77L
p.P1774L

27.3

-

Fu2022 E

KALRN

1-0200-004

chr3:
124147379-124147379

G

C

intronic

De novo

-

Yuen2017 G

KALRN

1-0629-003

chr3:
123814891-123814891

A

G

intronic

De novo

-

Yuen2017 G

KALRN

11928.p1

chr3:
124149657-124149657

C

T

intronic

Mosaic

-

0.0197

Dou2017 E

KALRN

2-0198-004

chr3:
124066642-124066662

GGTTGAATGTGCCCAGAGAAC

G

intronic

De novo

-

Yuen2017 G

KALRN

2-1148-004

chr3:
124145493-124145493

G

C

intronic

De novo

-

Yuen2017 G

KALRN

AU2793303

chr3:
124288022-124288022

G

A

intronic

De novo

-

Yuen2017 G

KALRN

AU4089301

chr3:
124322489-124322489

A

G

intronic

De novo

-

Yuen2017 G

KALRN

SP0058894

chr3:
124397066-124397066

T

G

exonic

De novo

nonsynonymous SNV

NM_007064
NM_001024660

c.T2132G
c.T7223G

p.M711R
p.M2408R

14.7

-

Fu2022 E

KALRN

2-1427-003

chr3:
124095952-124095952

T

C

intronic

De novo

-

Yuen2017 G

KALRN

PN400117

chr3:
124377314-124377314

A

G

exonic

De novo

nonsynonymous SNV

NM_007064
NM_001024660

c.A979G
c.A6070G

p.N327D
p.N2024D

24.0

-

Leblond2019 E

KALRN

SP0117149

chr3:
124174045-124174045

C

T

exonic

De novo

nonsynonymous SNV

NM_001024660
NM_003947

c.C3568T
c.C3568T

p.L1190F
p.L1190F

25.0

8.248E-6

Fu2022 E

KALRN

21189-33353

chr3:
124281892-124281892

C

T

exonic

Inherited

nonsynonymous SNV

NM_001024660

c.C5132T

p.S1711F

25.5

-

Callaghan2019 G

KALRN

SP0120630

chr3:
124210127-124210127

G

T

intronic

De novo

-

Fu2022 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
	More