Variant Results

or

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Results for "KNTC1"

Variant Events: 20

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

KNTC1

2-1089-004

chr12:
123047369-123047369

C

CATG

intronic

De novo

-

-

Yuen2017 G

KNTC1

Shi2013:2

chr12:
123067384-123067384

A

G

exonic

Inherited

nonsynonymous SNV

NM_014708

c.A3115G

p.I1039V

0.006

Shi2013 G

KNTC1

11124.p1

chr12:
123065120-123065120

C

T

intronic

Mosaic

-

-

Dou2017 E

KNTC1

2-0299-003

chr12:
123060025-123060025

G

A

intronic

De novo

-

-

Yuen2017 G

KNTC1

AU066404

chr12:
123023659-123023659

C

T

intronic

De novo

-

-

Yuen2017 G

KNTC1

2-1736-003

chr12:
123184445-123184446

GA

G

intergenic

De novo

-

-

Yuen2017 G

KNTC1

12693.p1

chr12:
123087166-123087166

C

T

exonic

De novo

synonymous SNV

NM_014708

c.C4704T

p.P1568P

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

KNTC1

Shi2013:1

chr12:
123067384-123067384

A

G

exonic

Inherited

nonsynonymous SNV

NM_014708

c.A3115G

p.I1039V

0.006

Shi2013 G

KNTC1

SP0014626

chr12:
123067180-123067180

C

A

intronic

De novo

-

-

Fu2022 E

KNTC1

2-1250-003

chr12:
123047369-123047369

C

CATG

intronic

De novo

-

-

Yuen2017 G

KNTC1

1-0099-003

chr12:
123098465-123098465

G

A

intronic

De novo

-

-

Yuen2017 G

KNTC1

G01-GEA-122-HI

chr12:
123105032-123105033

AG

A

exonic

De novo

frameshift deletion

NM_014708

c.6157delG

p.V2053fs

-

-

Fu2022 E
Satterstrom2020 E

KNTC1

iHART2844

chr12:
123067355-123067357

AAC

A

exonic

Paternal

frameshift deletion

NM_014708

c.3087_3088del

p.K1029fs

-

Ruzzo2019 G

KNTC1

3C140

chr12:
123105038-123105038

A

G

exonic

De novo

synonymous SNV

NM_014708

c.A6162G

p.S2054S

-

-

Fu2022 E
Satterstrom2020 E

KNTC1

SP0128869

chr12:
123107182-123107197

ACTGTGGAATTTCCTT

A

intronic

De novo

-

-

Fu2022 E

KNTC1

SSC04797

chr12:
123087166-123087166

C

T

exonic

De novo

synonymous SNV

NM_014708

c.C4704T

p.P1568P

-

Fu2022 E
Lim2017 E

KNTC1

AU0243-0201

chr12:
123087169-123087169

G

T

exonic

De novo

synonymous SNV

NM_014708

c.G4707T

p.V1569V

-

-

Fu2022 E
Satterstrom2020 E

KNTC1

2-1277-003

chr12:
123113181-123113181

T

G

intergenic

De novo

-

-

Yuen2017 G

KNTC1

1-0541-004

chr12:
123047369-123047369

C

CATG

intronic

De novo

-

-

Yuen2017 G

KNTC1

2-0304-003

chr12:
123017992-123017992

G

T

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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