Variant Results

or

Results for "BCAS3"

Variant Events: 69

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

BCAS3

11456.p1

chr17:
59407597-59407597

T

C

intronic

De novo

-

Turner2016 G

BCAS3

2-1252-003

chr17:
58899627-58899629

TAA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

2-1261-003

chr17:
59340214-59340214

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

1-0046-003

chr17:
58902266-58902266

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

BCAS3

2-0289-003

chr17:
58973988-58973994

ATATAAG

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

AU061104

chr17:
59433481-59433481

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

1-0022-003

chr17:
58807967-58807967

A

G

intronic

De novo

-

Yuen2016 G

BCAS3

A11

chr17:
59159713-59159713

C

A

intronic

De novo

-

Wu2018 G

BCAS3

1-0022-004

chr17:
58807967-58807967

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

1-0661-003

chr17:
59357658-59357658

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

Codina-Sola2015:ASD_3

chr17:
59469424-59469424

C

T

exonic

Paternal

stopgain

NM_017679
NM_001099432

c.C2680T
c.C2725T

p.R894X
p.R909X

37.0

2.494E-5

Codina-Sola2015 E

BCAS3

AU1860301

chr17:
58927344-58927344

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

AU3787302

chr17:
58768647-58768647

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

2-0310-004

chr17:
59263455-59263455

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

AU4197301

chr17:
59113173-59113173

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

7-0095-004

chr17:
59403969-59403969

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

1-0138-004

chr17:
59195689-59195689

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

2-1290-003

chr17:
59289132-59289132

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

1-0104-003

chr17:
59050135-59050135

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

5-0033-004

chr17:
58993308-58993308

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

SP0163362

chr17:
58761419-58761419

C

T

intronic

De novo

-

1.657E-5

Trost2022 G

BCAS3

1-1162-003

chr17:
58778192-58778192

A

G

intronic

De novo

-

Trost2022 G

BCAS3

5-0042-003

chr17:
58895992-58895992

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

7-0067-003

chr17:
58828651-58828651

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

MSSNG00345-003

chr17:
58892106-58892106

A

AT

intronic

De novo

-

Trost2022 G

BCAS3

AU4186302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

MSSNG00046-004

chr17:
58933164-58933164

C

T

intronic

De novo

-

Trost2022 G

BCAS3

AU2296301

chr17:
58827090-58827090

T

C

intronic

De novo

-

Trost2022 G

BCAS3

2-1725-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

MSSNG00109-004

chr17:
58852718-58852718

T

C

intronic

De novo

-

Trost2022 G

BCAS3

1-0203-004

chr17:
58958278-58958278

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

2-1068-003

chr17:
58790472-58790472

G

A

intronic

De novo

-

Trost2022 G

BCAS3

4-0046-003

chr17:
58826382-58826382

A

G

intronic

De novo

-

Trost2022 G

BCAS3

7-0396-003

chr17:
58781734-58781734

T

C

intronic

De novo

-

Trost2022 G

BCAS3

REACH000597

chr17:
58786333-58786333

C

T

intronic

De novo

-

Trost2022 G

BCAS3

3-0393-000

chr17:
59070021-59070021

G

A

intronic

De novo

-

Trost2022 G

BCAS3

2-0160-003

chr17:
59082245-59082245

G

A

intronic

De novo

-

Trost2022 G

BCAS3

AU055603

chr17:
59026839-59026839

G

A

intronic

De novo

-

Trost2022 G

BCAS3

MSSNG00329-003

chr17:
59036677-59036677

A

T

intronic

De novo

-

Trost2022 G

BCAS3

216287

chr17:
59004837-59004837

C

T

intronic

De novo

-

Trost2022 G

BCAS3

MSSNG00387-003

chr17:
59021169-59021169

T

A

intronic

De novo

-

Trost2022 G

BCAS3

1-0202-003

chr17:
58950776-58950776

C

G

intronic

De novo

-

Trost2022 G

BCAS3

4-0007-003

chr17:
58973894-58973894

C

A

intronic

De novo

-

Trost2022 G

BCAS3

MSSNG00045-005

chr17:
59180892-59180892

T

C

intronic

De novo

-

Trost2022 G

BCAS3

1-0479-006

chr17:
59445204-59445204

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BCAS3

MSSNG00007-003A

chr17:
59219698-59219698

A

G

intronic

De novo

-

Trost2022 G

BCAS3

4-0062-003

chr17:
59143946-59143947

TA

AT

intronic

De novo

-

Trost2022 G

BCAS3

V5T5W_01

chr17:
59159131-59159131

C

G

intronic

De novo

-

Trost2022 G

BCAS3

1-1148-003

chr17:
59092924-59092924

G

A

intronic

De novo

-

Trost2022 G

BCAS3

3-0602-000

chr17:
59095557-59095557

A

G

intronic

De novo

-

Trost2022 G

BCAS3

REACH000319

chr17:
59084061-59084061

A

G

intronic

De novo

-

Trost2022 G

BCAS3

1030

chr17:
59090781-59090781

G

A

intronic

De novo

-

Trost2022 G

BCAS3

1-1100-003

chr17:
59393881-59393881

C

T

intronic

De novo

-

Trost2022 G

BCAS3

3-0339-000

chr17:
59394826-59394826

C

T

intronic

De novo

-

Trost2022 G

BCAS3

10-1155-004

chr17:
59357987-59357987

T

C

intronic

De novo

-

Trost2022 G

BCAS3

4-0023-003

chr17:
59381094-59381094

C

A

intronic

De novo

-

Trost2022 G

BCAS3

MSSNG00366-004

chr17:
59279632-59279632

G

A

intronic

De novo

-

Trost2022 G

BCAS3

262-07-108410

chr17:
58967042-58967042

T

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

BCAS3

1-0562-004

chr17:
59286540-59286540

A

G

intronic

De novo

-

Trost2022 G

BCAS3

REACH000065

chr17:
59253542-59253542

T

A

intronic

De novo

-

Trost2022 G

BCAS3

7-0461-004

chr17:
59264111-59264111

G

A

intronic

De novo

-

Trost2022 G

BCAS3

AU1668302

chr17:
59279917-59279917

A

G

intronic

De novo

-

Yuen2017 G

BCAS3

1-0494-003A

chr17:
59450937-59450941

TGGCC

CGACT

intronic

De novo

-

Trost2022 G

BCAS3

13798.p1

chr17:
58979966-58979966

C

T

intronic

Mosaic

-

Dou2017 E

BCAS3

4-0062-003

chr17:
59453779-59453781

CTT

GAG

intronic

De novo

-

Trost2022 G

BCAS3

REACH000747

chr17:
59439732-59439732

G

A

intronic

De novo

-

Trost2022 G

BCAS3

3-0393-000

chr17:
59445613-59445613

G

A

intronic

De novo

-

Trost2022 G

BCAS3

AU2355301

chr17:
59395629-59395629

G

A

intronic

De novo

-

Trost2022 G

BCAS3

1-1070-003

chr17:
59400201-59400201

G

C

intronic

De novo

-

Trost2022 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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