Variant Results

or

Results for "SORBS1"

Variant Events: 34

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

SORBS1

1-0923-003

chr10:
97341309-97341309

G

C

intergenic

De novo

-

Yuen2017 G

SORBS1

2-1380-003

chr10:
97208972-97208972

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SORBS1

12429.p1

chr10:
97097034-97097034

C

T

exonic

synonymous SNV

NM_001034954
NM_001290294

c.G2883A
c.G2745A

p.K961K
p.K915K

-

Zhou2022 GE

SORBS1

7-0068-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SORBS1

PN400308

chr10:
97141509-97141509

C

T

exonic

Unknown

nonsynonymous SNV

NM_001034957
NM_006434
NM_001290297
NM_001034956
NM_001290295
NM_001290296
NM_001290298
NM_015385
NM_024991
NM_001034954
NM_001034955
NM_001290294

c.G956A
c.G956A
c.G983A
c.G1241A
c.G983A
c.G1496A
c.G1190A
c.G1352A
c.G1079A
c.G1586A
c.G1652A
c.G1448A

p.R319H
p.R319H
p.R328H
p.R414H
p.R328H
p.R499H
p.R397H
p.R451H
p.R360H
p.R529H
p.R551H
p.R483H

29.2

0.001

Leblond2019 E

SORBS1

PN400587

chr10:
97141509-97141509

C

T

exonic

Unknown

nonsynonymous SNV

NM_001034957
NM_006434
NM_001290297
NM_001034956
NM_001290295
NM_001290296
NM_001290298
NM_015385
NM_024991
NM_001034954
NM_001034955
NM_001290294

c.G956A
c.G956A
c.G983A
c.G1241A
c.G983A
c.G1496A
c.G1190A
c.G1352A
c.G1079A
c.G1586A
c.G1652A
c.G1448A

p.R319H
p.R319H
p.R328H
p.R414H
p.R328H
p.R499H
p.R397H
p.R451H
p.R360H
p.R529H
p.R551H
p.R483H

29.2

0.001

Leblond2019 E

SORBS1

2-1416-003

chr10:
97175192-97175192

T

C

intronic

De novo

-

0.0074

Yuen2017 G

SORBS1

35945

chr10:
97098949-97098951

CCA

C

exonic

De novo

frameshift deletion

NM_006434
NM_001034957
NM_001290295
NM_001290297
NM_015385
NM_001290298
NM_024991
NM_001034956
NM_001290296
NM_001034954
NM_001034955
NM_001290294

c.1754_1755del
c.1922_1923del
c.1949_1950del
c.2135_2136del
c.2150_2151del
c.2240_2241del
c.2045_2046del
c.2357_2358del
c.2714_2715del
c.2804_2805del
c.2870_2871del
c.2666_2667del

p.V585fs
p.V641fs
p.V650fs
p.V712fs
p.V717fs
p.V747fs
p.V682fs
p.V786fs
p.V905fs
p.V935fs
p.V957fs
p.V889fs

-

Fu2022 E
Trost2022 G

SORBS1

A5

chr10:
97319303-97319303

A

G

intronic

De novo

-

Wu2018 G

SORBS1

MSSNG00037-003

chr10:
97092592-97092592

A

G

intronic

De novo

-

Trost2022 G

SORBS1

1-0389-004

chr10:
97143711-97143711

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORBS1

Cukier2014:37425

chr10:
97194397-97194397

C

G

exonic

Unknown

nonsynonymous SNV

NM_001034954
NM_001034955
NM_001034956
NM_001290296
NM_001290298
NM_001290294
NM_024991

c.G154C
c.G154C
c.G154C
c.G154C
c.G154C
c.G154C
c.G154C

p.G52R
p.G52R
p.G52R
p.G52R
p.G52R
p.G52R
p.G52R

18.33

3.0E-4

Cukier2014 E

SORBS1

1-0558-003

chr10:
97351792-97351793

CA

C

intergenic

De novo

-

Yuen2017 G

SORBS1

2-1359-003

chr10:
97208045-97208045

C

A

intronic

De novo

-

Trost2022 G

SORBS1

3-0159-000

chr10:
97240815-97240815

C

T

intronic

De novo

-

Trost2022 G

SORBS1

AU3635301

chr10:
97128547-97128547

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORBS1

1-0079-003

chr10:
97208011-97208012

TC

AA

intronic

De novo

-

Trost2022 G

SORBS1

1-0321-004

chr10:
97208017-97208019

TAC

ATGGGG

intronic

De novo

-

Trost2022 G

SORBS1

2-0240-004

chr10:
97313280-97313280

T

C

intronic

De novo

-

Yuen2017 G

SORBS1

SP0199405

chr10:
97149615-97149615

G

A

intronic

De novo

-

Trost2022 G

SORBS1

1-0835-003

chr10:
97139041-97139041

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORBS1

5-0051-003

chr10:
97187171-97187171

G

A

intronic

De novo

-

Trost2022 G

SORBS1

7-0361-003

chr10:
97108506-97108506

C

A

intronic

De novo

-

Trost2022 G

SORBS1

SP0150257

chr10:
97116716-97116716

A

T

intronic

De novo

20.9

-

Trost2022 G

SORBS1

MSSNG00255-004

chr10:
97294126-97294127

TG

T

intronic

De novo

-

Trost2022 G

SORBS1

3-0416-000

chr10:
97254834-97254834

G

C

intronic

De novo

-

Trost2022 G

SORBS1

Bruno2021:XXIII

chr10:
97114672-97114672

T

G

exonic

De novo

nonsynonymous SNV

NM_001034957
NM_006434
NM_001290295
NM_001290297
NM_001290298
NM_015385
NM_024991
NM_001034956
NM_001290296
NM_001034954
NM_001034955
NM_001290294

c.A1299C
c.A1299C
c.A1326C
c.A1512C
c.A1617C
c.A1695C
c.A1422C
c.A1734C
c.A2091C
c.A2181C
c.A2247C
c.A2043C

p.E433D
p.E433D
p.E442D
p.E504D
p.E539D
p.E565D
p.E474D
p.E578D
p.E697D
p.E727D
p.E749D
p.E681D

18.9

-

Bruno2021 E

SORBS1

3-0360-000

chr10:
97276385-97276385

T

C

intronic

De novo

-

Trost2022 G

SORBS1

1-0393-003

chr10:
97243111-97243111

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORBS1

2-1723-003

chr10:
97247449-97247450

GA

CG

intronic

De novo

-

Trost2022 G

SORBS1

1-0887-003

chr10:
97250043-97250043

G

A

intronic

De novo

-

Trost2022 G

SORBS1

PN400590

chr10:
97141509-97141509

C

T

exonic

Unknown

nonsynonymous SNV

NM_001034957
NM_006434
NM_001290297
NM_001034956
NM_001290295
NM_001290296
NM_001290298
NM_015385
NM_024991
NM_001034954
NM_001034955
NM_001290294

c.G956A
c.G956A
c.G983A
c.G1241A
c.G983A
c.G1496A
c.G1190A
c.G1352A
c.G1079A
c.G1586A
c.G1652A
c.G1448A

p.R319H
p.R319H
p.R328H
p.R414H
p.R328H
p.R499H
p.R397H
p.R451H
p.R360H
p.R529H
p.R551H
p.R483H

29.2

0.001

Leblond2019 E

SORBS1

2-0318-003

chr10:
97244489-97244489

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SORBS1

13147.p1

chr10:
97098949-97098951

CCA

C

exonic

De novo

frameshift deletion

NM_006434
NM_001034957
NM_001290295
NM_001290297
NM_015385
NM_001290298
NM_024991
NM_001034956
NM_001290296
NM_001034954
NM_001034955
NM_001290294

c.1754_1755del
c.1922_1923del
c.1949_1950del
c.2135_2136del
c.2150_2151del
c.2240_2241del
c.2045_2046del
c.2357_2358del
c.2714_2715del
c.2804_2805del
c.2870_2871del
c.2666_2667del

p.V585fs
p.V641fs
p.V650fs
p.V712fs
p.V717fs
p.V747fs
p.V682fs
p.V786fs
p.V905fs
p.V935fs
p.V957fs
p.V889fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

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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