Variant Results

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Results for "SEMA4B"

Variant Events: 11

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

SEMA4B

200675370@1082034608

chr15:
90771256-90771256

C

T

exonic

De novo

nonsynonymous SNV

NM_198925
NM_020210

c.C1895T
c.C1895T

p.S632L
p.S632L

14.28

Satterstrom2020 E

SEMA4B

SP0116067

chr15:
90744796-90744796

G

A

UTR5

De novo

-

-

Fu2022 E

SEMA4B

SP0088192

chr15:
90771840-90771840

C

T

exonic

De novo

nonsynonymous SNV

NM_198925
NM_020210

c.C2479T
c.C2479T

p.R827C
p.R827C

17.16

Fu2022 E

SEMA4B

Chen2017:20

chr15:
90771256-90771256

C

T

exonic

De novo

nonsynonymous SNV

NM_198925
NM_020210

c.C1895T
c.C1895T

p.S632L
p.S632L

14.28

Chen2017 E

SEMA4B

SP0005195

chr15:
90728082-90728082

C

T

upstream

De novo

-

-

Fu2022 E

SEMA4B

AU3680301

chr15:
90745996-90745996

G

A

intronic

De novo

-

-

Yuen2017 G

SEMA4B

11644.p1

chr15:
90764905-90764905

G

A

exonic

Mosaic

nonsynonymous SNV

NM_198925
NM_020210

c.G769A
c.G769A

p.D257N
p.D257N

28.4

-

Dou2017 E

SEMA4B

1-0263-003

chr15:
90763059-90763059

C

T

exonic

De novo

nonsynonymous SNV

NM_198925
NM_020210

c.C419T
c.C419T

p.P140L
p.P140L

12.17

Yuen2016 G

SEMA4B

08C72945

chr15:
90760770-90760770

C

T

exonic

De novo

nonsynonymous SNV

NM_198925
NM_020210

c.C257T
c.C257T

p.A86V
p.A86V

19.42

-

Fu2022 E
Satterstrom2020 E

SEMA4B

AU3997302

chr15:
90758302-90758302

G

A

intronic

De novo

-

-

Yuen2017 G

SEMA4B

7-0102-003

chr15:
90738902-90738902

C

T

intronic

De novo

-

-

Yuen2017 G

Source Variant Information

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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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