Variant Results

or

Results for "UNC79"

Variant Events: 52

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

UNC79

SP0086553

chr14:
94041444-94041444

T

C

exonic

De novo

nonsynonymous SNV

NM_020818

c.T1580C

p.L527P

19.51

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UNC79

SP0032955

chr14:
94155166-94155166

C

T

exonic

De novo

synonymous SNV

NM_020818

c.C6651T

p.P2217P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UNC79

SP0072739

chr14:
94121716-94121716

C

T

exonic

De novo

nonsynonymous SNV

NM_020818

c.C6005T

p.T2002I

17.49

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UNC79

14695.p1

chr14:
94120380-94120380

C

T

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

UNC79

iHART3145

chr14:
94088960-94088960

C

CAG

exonic

Maternal

frameshift insertion

NM_020818

c.4850_4851insAG

p.A1617fs

-

Ruzzo2019 G

UNC79

iHART3144

chr14:
94088960-94088960

C

CAG

exonic

Maternal

frameshift insertion

NM_020818

c.4850_4851insAG

p.A1617fs

-

Ruzzo2019 G

UNC79

AU2622301

chr14:
93897457-93897457

G

A

intronic

De novo

-

Trost2022 G

UNC79

2-1508-003

chr14:
93934515-93934516

CA

TG

intronic

De novo

-

Trost2022 G

UNC79

MSSNG00423-004

chr14:
93857214-93857214

T

C

intronic

De novo

-

Trost2022 G

UNC79

MSSNG00257-003

chr14:
93891605-93891605

A

G

intronic

De novo

-

Trost2022 G

UNC79

SP0119336

chr14:
94038178-94038178

T

G

intronic

De novo

-

Fu2022 E

UNC79

SP0129240

chr14:
94139783-94139786

CCTT

C

exonic

De novo

nonframeshift deletion

NM_020818

c.6310_6312del

p.2104_2104del

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UNC79

MSSNG00369-005

chr14:
93834915-93834915

C

T

intronic

De novo

-

Trost2022 G

UNC79

SP0030497

chr14:
93934010-93934010

T

TTTTTTTTTTTTTTTTTTTTATAA

intronic

De novo

-

Fu2022 E

UNC79

SP0082603

chr14:
94120018-94120018

C

CT

intronic

De novo

-

Fu2022 E

UNC79

MSSNG00029-004

chr14:
94075357-94075357

A

G

intronic

De novo

-

Trost2022 G

UNC79

SP0203196

chr14:
94087999-94087999

G

A

exonic

De novo

nonsynonymous SNV

NM_020818

c.G3889A

p.G1297S

11.93

-

Trost2022 G

UNC79

7-0389-003

chr14:
94063560-94063560

T

C

intronic

De novo

-

Trost2022 G

UNC79

1-0604-003

chr14:
93944944-93944963

AAATAATAATAATAATAATA

AAATAATAATAATAATA

intronic

De novo

-

Yuen2017 G

UNC79

MSSNG00392-003

chr14:
94070847-94070847

T

C

intronic

De novo

-

Trost2022 G

UNC79

5-5237-003

chr14:
94008400-94008400

G

A

intronic

De novo

-

Trost2022 G

UNC79

MSSNG00204-003

chr14:
94033781-94033781

C

T

intronic

De novo

-

Trost2022 G

UNC79

3-0368-000

chr14:
93938763-93938763

G

A

intronic

De novo

-

Trost2022 G

UNC79

1-0649-003

chr14:
94005271-94005271

C

T

intronic

De novo

-

Trost2022 G

UNC79

AU2338301

chr14:
94107579-94107579

G

A

exonic

synonymous SNV

NM_020818

c.G5475A

p.T1825T

-

8.806E-6

Zhou2022 GE

UNC79

25.s1

chr14:
94008885-94008885

G

A

exonic

De novo

stopgain

NM_020818

c.G1067A

p.W356X

39.0

-

An2014 E

UNC79

44983

chr14:
94153024-94153024

C

G

intronic

De novo

-

Trost2022 G

UNC79

1-0218-004

chr14:
93822771-93822771

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC79

3-0477-000

chr14:
94120839-94120839

A

G

intronic

De novo

-

Trost2022 G

UNC79

1-1003-003A

chr14:
94141556-94141556

A

G

intronic

De novo

-

Trost2022 G

UNC79

7-0240-004

chr14:
93940723-93940723

A

G

UTR5

De novo

-

Trost2022 G
Zhou2022 GE

UNC79

7-0450-003

chr14:
94105049-94105049

A

C

intronic

De novo

-

Trost2022 G

UNC79

SSC12117

chr14:
94120380-94120380

C

T

intronic

De novo

-

Trost2022 G

UNC79

37386

chr14:
94088799-94088800

AC

A

exonic

De novo

stopgain

NM_020818

c.4690delC

p.L1564X

-

Fu2022 E
Trost2022 G

UNC79

08C73486

chr14:
94107579-94107579

G

A

exonic

De novo

synonymous SNV

NM_020818

c.G5475A

p.T1825T

-

8.806E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UNC79

Viggiano2022:105.3

chr14:
94088270-94088270

A

T

exonic

Maternal

nonsynonymous SNV

NM_020818

c.A4160T

p.N1387I

9.235

-

Viggiano2022 GT

UNC79

AU3702307

chr14:
94088960-94088960

C

CAG

exonic

Maternal

frameshift insertion

NM_020818

c.4850_4851insAG

p.A1617fs

-

Cirnigliaro2023 G

UNC79

AU3702306

chr14:
94088960-94088960

C

CAG

exonic

Maternal

frameshift insertion

NM_020818

c.4850_4851insAG

p.A1617fs

-

Cirnigliaro2023 G

UNC79

2-1154-003

chr14:
94173820-94173820

C

T

downstream

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

UNC79

2-0318-004

chr14:
93803298-93803298

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC79

EGAN00001101042

chr14:
93934056-93934056

G

A

UTR5

De novo

29.1

8.125E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UNC79

AU070007

chr14:
93872630-93872630

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC79

1-0257-003

chr14:
94147039-94147039

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC79

2-1475-003

chr14:
94160998-94160998

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC79

14530.p1

chr14:
94088799-94088800

AC

A

exonic

De novo

stopgain

NM_020818

c.4690delC

p.L1564X

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

UNC79

14542.p1

chr14:
94153024-94153024

C

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

UNC79

9190768

chr14:
94156268-94156268

T

G

intronic

De novo

-

Fu2022 E

UNC79

5-0026-003

chr14:
93926117-93926117

T

A

intronic

De novo

-

Yuen2017 G

UNC79

2-1381-003

chr14:
94160761-94160761

A

T

intronic

De novo

-

Yuen2017 G
Zhou2022 GE

UNC79

14547.p1

chr14:
94129046-94129046

C

T

exonic

Mosaic

stopgain

NM_020818

c.C6208T

p.R2070X

47.0

-

Krupp2017 E

UNC79

SSC12449

chr14:
94088799-94088800

AC

A

exonic

stopgain

NM_020818

c.4690delC

p.L1564X

-

Antaki2022 GE

UNC79

2-0171-003

chr14:
93944971-93944971

C

G

intronic

De novo

-

Trost2022 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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