Variant Results

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or

Results for "BTAF1"

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

BTAF1

2-1511-003

chr10:
93693333-93693333

G

A

intronic

De novo

-

-

Yuen2017 G

BTAF1

1-0292-005

chr10:
93716323-93716323

G

A

exonic

De novo

nonsynonymous SNV

NM_003972

c.G740A

p.R247Q

21.9

-

Yuen2015 G
Yuen2017 G

BTAF1

11025.p1

chr10:
93723820-93723851

AACTGATCTTATAGGTGCCCTTCATTATAAAT

A

exonic

De novo

nonframeshift deletion

NM_003972

c.1405_1422del

p.469_474del

-

-

Wilfert2021 G

BTAF1

SSC02891

chr10:
93723898-93723899

CA

C

exonic

frameshift deletion

NM_003972

c.1470delA

p.T490fs

-

-

Antaki2022 GE

BTAF1

7-0255-003

chr10:
93801554-93801554

T

C

intergenic

De novo

-

-

Yuen2017 G

BTAF1

03HI2710A

chr10:
93740209-93740209

A

T

splicing

splicing

19.64

Doan2019 E

BTAF1

G01-GEA-301-HI

chr10:
93767924-93767924

A

G

exonic

De novo

synonymous SNV

NM_003972

c.A3705G

p.Q1235Q

-

-

Fu2022 E
Satterstrom2020 E

BTAF1

152430

chr10:
93753608-93753608

T

C

intronic

De novo

-

-

Fu2022 E
Satterstrom2020 E

BTAF1

1-0181-004

chr10:
93700658-93700658

G

A

intronic

De novo

-

-

Yuen2017 G

BTAF1

1-0126-003

chr10:
93762226-93762226

G

T

intronic

De novo

-

-

Yuen2017 G

BTAF1

SSC02891

chr10:
93723820-93723851

AACTGATCTTATAGGTGCCCTTCATTATAAAT

A

exonic

nonframeshift deletion

NM_003972

c.1405_1422del

p.469_474del

-

-

Antaki2022 GE

BTAF1

SP0152979

chr10:
93723787-93723787

G

A

intronic

De novo

-

-

Fu2022 E

BTAF1

SP0106290

chr10:
93786395-93786395

G

A

exonic

De novo

nonsynonymous SNV

NM_003972

c.G5122A

p.V1708I

32.0

Fu2022 E

BTAF1

11025.p1

chr10:
93723898-93723899

CA

C

exonic

De novo

frameshift deletion

NM_003972

c.1470delA

p.T490fs

-

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

BTAF1

SP0032561

chr10:
93744130-93744130

A

G

exonic

De novo

nonsynonymous SNV

NM_003972

c.A2396G

p.N799S

0.176

Feliciano2019 E
Fu2022 E

BTAF1

11946.p1

chr10:
93776242-93776242

T

C

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E

BTAF1

11555.p1

chr10:
93784493-93784493

T

TTTTG

intronic

De novo

-

Krumm2015 E

BTAF1

1-0346-004

chr10:
93693938-93693938

G

A

intronic

De novo

-

-

Yuen2017 G

BTAF1

03HI2710A

chr10:
93756124-93756124

A

T

splicing

splicing

21.7

Doan2019 E

BTAF1

SP0004952

chr10:
93749095-93749095

C

T

exonic

De novo

nonsynonymous SNV

NM_003972

c.C2612T

p.P871L

28.3

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
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