Variant Results

or

Results for "UNC5C"

Variant Events: 66

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

UNC5C

1-0049-004

chr4:
96316097-96316097

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

1-0559-004

chr4:
96364783-96364783

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

AU4013302

chr4:
96192436-96192436

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

SP0044699

chr4:
96127845-96127845

G

A

exonic

De novo

synonymous SNV

NM_003728

c.C1836T

p.C612C

-

3.0E-4

Trost2022 G
Zhou2022 GE

UNC5C

AU072905

chr4:
96135844-96135844

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

1-0092-003

chr4:
96497014-96497014

T

TC

intergenic

De novo

-

Yuen2017 G

UNC5C

7-0167-003

chr4:
96236863-96236863

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

1-0448-003

chr4:
96466974-96466974

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

1-0075-003

chr4:
96158617-96158617

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

1-0995-003

chr4:
96192827-96192827

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

5-0030-003

chr4:
96113385-96113385

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

1-0144-004

chr4:
96301729-96301729

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

2-1302-003

chr4:
96287959-96287959

G

T

intronic

De novo

-

Yuen2017 G

UNC5C

2-1721-003

chr4:
96707804-96707804

T

C

intergenic

De novo

-

Yuen2017 G

UNC5C

AU059903

chr4:
96599884-96599911

TACACACACACACATACACACACACACA

TACACACACACATACACACACACACA

intergenic

De novo

-

Yuen2017 G

UNC5C

4-0009-003

chr4:
96117362-96117362

A

G

intronic

De novo

-

Trost2022 G

UNC5C

1-0264-006

chr4:
96119556-96119557

GT

G

intronic

De novo

-

Trost2022 G

UNC5C

REACH000709

chr4:
96097747-96097747

C

T

intronic

De novo

-

Trost2022 G

UNC5C

AU2320301

chr4:
96101045-96101045

T

G

intronic

De novo

-

Trost2022 G

UNC5C

1-0203-004

chr4:
96680899-96680901

CTG

C

intergenic

De novo

-

Yuen2017 G

UNC5C

SSC08290

chr4:
96090347-96090347

T

C

UTR3

De novo

-

Trost2022 G

UNC5C

2-1163-003

chr4:
96696986-96696986

G

T

intergenic

De novo

-

Yuen2016 G

UNC5C

5-0009-003

chr4:
96221978-96221978

G

A

intronic

De novo

-

Trost2022 G

UNC5C

4-0039-003

chr4:
96229825-96229825

C

A

intronic

De novo

-

Trost2022 G

UNC5C

11117.p1

Complex Event; expand row to view variants

De novo

nonframeshift deletion, nonframeshift substitution

NM_003728
NM_003728

c.7_9del
c.7_10T

p.3_3del
N/A

-

Ji2016 E
Krumm2015 E

UNC5C

08C74292

chr4:
96256683-96256683

T

C

exonic

De novo

nonsynonymous SNV

NM_003728

c.A224G

p.K75R

23.9

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UNC5C

MSSNG00329-003

chr4:
96150819-96150819

G

T

intronic

De novo

-

Trost2022 G

UNC5C

AU2320301

chr4:
96188314-96188314

C

A

intronic

De novo

-

Trost2022 G

UNC5C

3-0099-000

chr4:
96148652-96148652

C

A

intronic

De novo

-

Trost2022 G

UNC5C

2-0006-004

chr4:
96290372-96290377

TACTTG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

2-1231-003

chr4:
96150709-96150710

TG

T

intronic

De novo

-

Trost2022 G

UNC5C

1-1158-003

chr4:
96142702-96142706

CTCTA

C

intronic

De novo

-

Trost2022 G

UNC5C

1-0257-003

chr4:
96467942-96467942

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

MSSNG00342-004

chr4:
96146309-96146309

G

A

intronic

De novo

-

Trost2022 G

UNC5C

MSSNG00444-003

chr4:
96388415-96388415

G

A

intronic

De novo

-

Trost2022 G

UNC5C

MSSNG00364-003

chr4:
96391175-96391175

C

T

intronic

De novo

-

Trost2022 G

UNC5C

3-0080-000

chr4:
96522334-96522334

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

UNC5C

2-1093-003

chr4:
96322788-96322788

T

G

intronic

De novo

-

Trost2022 G

UNC5C

AU3632301

chr4:
96445866-96445866

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

7-0347-003

chr4:
96345916-96345916

C

T

intronic

De novo

-

Trost2022 G

UNC5C

3-0091-000

chr4:
96279381-96279381

T

A

intronic

De novo

-

Trost2022 G

UNC5C

MSSNG00005-003

chr4:
96303886-96303886

A

G

intronic

De novo

-

Trost2022 G

UNC5C

7-0058-003

chr4:
96251360-96251364

ACTTC

TAT

intronic

De novo

-

Trost2022 G

UNC5C

1-1124-003

chr4:
96260876-96260876

C

T

intronic

De novo

-

Trost2022 G

UNC5C

2-1357-004

chr4:
96633958-96633958

G

A

intergenic

De novo

-

Yuen2017 G

UNC5C

AU4033304

chr4:
96491606-96491606

G

C

intergenic

De novo

-

Yuen2017 G

UNC5C

2-1107-003

chr4:
96678196-96678196

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

UNC5C

MSSNG00366-004

chr4:
96454499-96454499

A

T

intronic

De novo

-

Trost2022 G

UNC5C

MSSNG00196-003

chr4:
96469638-96469638

T

C

intronic

De novo

-

Trost2022 G

UNC5C

3-0752-000

chr4:
96414700-96414700

A

AT

intronic

De novo

-

Trost2022 G

UNC5C

1-0701-003

chr4:
96414052-96414052

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

3-0025-000

chr4:
96452170-96452170

G

A

intronic

De novo

-

Trost2022 G

UNC5C

5-0116-003

chr4:
96174414-96174414

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

AU3698301

chr4:
96530010-96530015

AATGAT

AAT

intergenic

De novo

-

Yuen2017 G

UNC5C

1-0344-003

chr4:
96504636-96504636

G

A

intergenic

De novo

-

Yuen2017 G

UNC5C

AU2162302

chr4:
96445533-96445533

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

7-0250-003

chr4:
96619335-96619335

G

A

intergenic

De novo

-

Yuen2017 G

UNC5C

13654.p1

chr4:
96090347-96090347

T

C

UTR3

De novo

-

Satterstrom2020 E

UNC5C

1-0065-004

chr4:
96303886-96303886

A

G

intronic

De novo

-

Yuen2017 G

UNC5C

AU4485302

chr4:
96607081-96607081

T

A

intergenic

De novo

-

Yuen2017 G

UNC5C

AU0452304

chr4:
96226484-96226484

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

AU4079302

chr4:
96400203-96400203

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

74-0355

chr4:
96248589-96248589

C

A

intronic

De novo

-

Michaelson2012 G

UNC5C

1-0253-004

chr4:
96603397-96603397

G

A

intergenic

De novo

-

Yuen2017 G

UNC5C

2-1605-003

chr4:
96375755-96375755

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC5C

AU4476302

chr4:
96362963-96362963

G

A

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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