Variant Results

or

Results for "STAB1"

Variant Events: 26

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

STAB1

1-0763-004

chr3:
52552087-52552087

T

C

intronic

De novo

-

Yuen2017 G

STAB1

A11047-1

chr3:
52557058-52557058

C

T

exonic

Unknown

stopgain

NM_015136

c.C6928T

p.R2310X

46.0

1.82E-5

Li2017 T

STAB1

2-0143-004

chr3:
52540643-52540643

G

A

intronic

De novo

-

Yuen2017 G

STAB1

11887-1

chr3:
52535587-52535587

T

C

intronic

De novo

-

Fu2022 E

STAB1

2-1429-004

chr3:
52555734-52555734

C

T

intronic

De novo

-

8.752E-6

Yuen2017 G

STAB1

iHART2777

chr3:
52553372-52553372

G

GC

exonic

Paternal

frameshift insertion

NM_015136

c.5128dupC

p.L1709fs

-

7.474E-5

Ruzzo2019 G

STAB1

iHART2792

chr3:
52551067-52551068

TG

T

exonic

Paternal

frameshift deletion

NM_015136

c.4432delG

p.G1478fs

-

Ruzzo2019 G

STAB1

iHART2989

chr3:
52554560-52554560

C

T

exonic

Maternal

stopgain

NM_015136

c.C5644T

p.R1882X

41.0

8.364E-6

Ruzzo2019 G

STAB1

13665.p1

chr3:
52540749-52540749

G

C

exonic

De novo

nonsynonymous SNV

NM_015136

c.G1872C

p.R624S

5.391

-

Krumm2015 E
Lim2017 E
Satterstrom2020 E

STAB1

iHART2772

chr3:
52554307-52554307

G

A

splicing

Maternal

splicing

10.45

1.661E-5

Ruzzo2019 G

STAB1

ASD_F6P

chr3:
52548772-52548772

C

A

exonic

Unknown

stopgain

NM_015136

c.C3734A

p.S1245X

40.0

-

Li2017 T

STAB1

SP0080336

chr3:
52539806-52539806

A

C

intronic

De novo

-

Fu2022 E

STAB1

SP0004790

chr3:
52536083-52536083

C

A

exonic

De novo

nonsynonymous SNV

NM_015136

c.C393A

p.D131E

1.536

-

Fu2022 E

STAB1

SP0101966

chr3:
52535682-52535682

G

A

exonic

De novo

nonsynonymous SNV

NM_015136

c.G244A

p.V82M

15.92

4.128E-5

Fu2022 E

STAB1

1562001

chr3:
52549467-52549467

G

C

exonic

De novo

nonsynonymous SNV

NM_015136

c.G3893C

p.R1298P

12.96

1.663E-5

Fu2022 E
Satterstrom2020 E

STAB1

13890.p1

chr3:
52555566-52555567

GC

G

intronic

De novo

-

Satterstrom2020 E

STAB1

SP0008780

chr3:
52555698-52555698

C

T

exonic

De novo

nonsynonymous SNV

NM_015136

c.C6145T

p.R2049C

10.82

3.465E-5

Fu2022 E

STAB1

Li2017:17460

chr3:
52550182-52550182

T

G

exonic

Unknown

nonsynonymous SNV

NM_015136

c.T4072G

p.C1358G

24.5

-

Li2017 T

STAB1

Li2017:19658

chr3:
52557455-52557457

CCA

C

exonic

Unknown

frameshift deletion

NM_015136

c.7154_7155del

p.P2385fs

-

Li2017 T

STAB1

1762_14au

chr3:
52555618-52555618

G

A

exonic

De novo

nonsynonymous SNV

NM_015136

c.G6065A

p.R2022H

11.38

2.594E-5

Fu2022 E
Satterstrom2020 E

STAB1

A14

chr3:
52548772-52548772

C

A

exonic

De novo

stopgain

NM_015136

c.C3734A

p.S1245X

40.0

-

Wu2018 G

STAB1

A1

chr3:
52557058-52557058

C

T

exonic

De novo

stopgain

NM_015136

c.C6928T

p.R2310X

46.0

1.82E-5

Wu2018 G

STAB1

13665_p1

chr3:
52540749-52540749

G

C

exonic

De novo

nonsynonymous SNV

NM_015136

c.G1872C

p.R624S

5.391

-

Fu2022 E

STAB1

AU4152303

chr3:
52556865-52556865

G

A

exonic

De novo

synonymous SNV

NM_015136

c.G6819A

p.A2273A

-

7.0E-4

Yuen2017 G

STAB1

SP0033071

chr3:
52540948-52540948

C

T

intronic

De novo

-

Fu2022 E

STAB1

1-0303-004

chr3:
52533898-52533898

G

C

intronic

De novo

-

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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