Variant Results

or

Results for "SPTBN5"

Variant Events: 27

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

SPTBN5

iHART2605

chr15:
42149458-42149458

G

A

exonic

Paternal

stopgain

NM_016642

c.C8599T

p.Q2867X

48.0

1.938E-5

Ruzzo2019 G

SPTBN5

iHART3044

chr15:
42146337-42146337

G

A

exonic

Paternal

stopgain

NM_016642

c.C9685T

p.Q3229X

50.0

6.561E-5

Ruzzo2019 G

SPTBN5

iHART1424

chr15:
42158097-42158097

A

AC

exonic

Paternal

frameshift insertion

NM_016642

c.6826dupG

p.V2276fs

-

3.603E-5

Ruzzo2019 G

SPTBN5

iHART2791

chr15:
42158044-42158044

G

A

exonic

Maternal

stopgain

NM_016642

c.C6880T

p.R2294X

46.0

3.88E-5

Ruzzo2019 G

SPTBN5

iHART1237

chr15:
42142117-42142117

G

GCTGA

exonic

Maternal

frameshift insertion

NM_016642

c.10961_10962insTCAG

p.S3654fs

-

1.0E-4

Ruzzo2019 G

SPTBN5

iHART3300

chr15:
42145779-42145779

C

T

splicing

Paternal

splicing

12.04

-

Ruzzo2019 G

SPTBN5

3589_17au

chr15:
42185117-42185117

C

T

exonic

De novo

nonsynonymous SNV

NM_016642

c.G359A

p.R120Q

20.5

3.0E-4

Fu2022 E

SPTBN5

1-0560-003

chr15:
42171032-42171032

G

A

intronic

De novo

-

Yuen2017 G

SPTBN5

iHART3298

chr15:
42145779-42145779

C

T

splicing

Paternal

splicing

12.04

-

Ruzzo2019 G

SPTBN5

JASD_Fam0110

chr15:
42142103-42142103

C

T

exonic

De novo

nonsynonymous SNV

NM_016642

c.G10976A

p.C3659Y

0.005

-

Takata2018 E

SPTBN5

iHART1268

chr15:
42185746-42185746

T

C

splicing

Maternal

splicing

-

Ruzzo2019 G

SPTBN5

iHART1880

chr15:
42171591-42171591

G

A

exonic

Paternal

stopgain

NM_016642

c.C3049T

p.R1017X

40.0

4.424E-5

Ruzzo2019 G

SPTBN5

iHART1327

chr15:
42160302-42160304

ACT

A

exonic

Maternal

frameshift deletion

NM_016642

c.6170_6171del

p.E2057fs

-

Ruzzo2019 G

SPTBN5

iHART1271

chr15:
42185746-42185746

T

C

splicing

Maternal

splicing

-

Ruzzo2019 G

SPTBN5

iHART1879

chr15:
42171591-42171591

G

A

exonic

Paternal

stopgain

NM_016642

c.C3049T

p.R1017X

40.0

4.424E-5

Ruzzo2019 G

SPTBN5

ASDFI_1166

chr15:
42168347-42168347

G

C

exonic

De novo

nonsynonymous SNV

NM_016642

c.C4087G

p.L1363V

13.41

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SPTBN5

07C68594

chr15:
42185167-42185167

T

G

exonic

De novo

synonymous SNV

NM_016642

c.A309C

p.P103P

-

8.871E-5

Satterstrom2020 E

SPTBN5

EGAN00001101291

chr15:
42185167-42185167

T

G

exonic

De novo

synonymous SNV

NM_016642

c.A309C

p.P103P

-

8.871E-5

Satterstrom2020 E

SPTBN5

SSC09724

chr15:
42144028-42144028

G

C

exonic

De novo

synonymous SNV

NM_016642

c.C10605G

p.T3535T

-

Lim2017 E

SPTBN5

11563.p1

chr15:
42150831-42150831

G

A

exonic

De novo

nonsynonymous SNV

NM_016642

c.C8195T

p.A2732V

11.16

1.915E-5

Satterstrom2020 E

SPTBN5

SP0047928

chr15:
42147654-42147654

T

C

intronic

De novo

-

Fu2022 E

SPTBN5

MT_69

chr15:
42154996-42154996

G

A

exonic

Paternal

stopgain

NM_016642

c.C7255T

p.Q2419X

47.0

-

Toma2013 E

SPTBN5

1-0358-003

chr15:
42160945-42160945

C

T

intronic

De novo

-

Yuen2017 G

SPTBN5

SP0123712

chr15:
42162070-42162070

C

T

exonic

De novo

nonsynonymous SNV

NM_016642

c.G5822A

p.R1941Q

1.592

3.0E-4

Fu2022 E

SPTBN5

SP0028220

chr15:
42156031-42156031

G

T

intronic

De novo

-

Fu2022 E

SPTBN5

SP0116444

chr15:
42144472-42144472

C

T

exonic

De novo

nonsynonymous SNV

NM_016642

c.G10492A

p.G3498R

2.663

1.416E-5

Fu2022 E

SPTBN5

7-0055-003

chr15:
42147534-42147534

T

C

exonic

De novo

nonsynonymous SNV

NM_016642

c.A9311G

p.Q3104R

26.1

-

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
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