Variant Results

or

or

Results for "SOX7"

Variant Events: 12

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

SOX7

Chen2017:19

chr8:
10583812-10583812

C

T

exonic

De novo

synonymous SNV

NM_031439

c.G603A

p.L201L

-

-

Chen2017 E

SOX7

2-1352-003

chr8:
10583692-10583692

C

T

exonic

De novo

synonymous SNV

NM_031439

c.G723A

p.P241P

-

-

Jiang2013 G
Yuen2016 G

SOX7

MSSNG00218-003

chr8:
10587327-10587327

G

C

intronic

De novo

-

-

Trost2022 G

SOX7

2-1594-003

chr8:
10606652-10606652

C

T

intergenic

De novo

-

-

Yuen2017 G

SOX7

200675366@1082034453

chr8:
10583812-10583812

C

T

exonic

De novo

synonymous SNV

NM_031439

c.G603A

p.L201L

-

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SOX7

1-0278-003

chr8:
10616632-10616632

C

T

intergenic

De novo

-

-

Yuen2016 G

SOX7

200675300@1082034284

chr8:
10583275-10583275

C

T

exonic

De novo

synonymous SNV

NM_031439

c.G1140A

p.T380T

-

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SOX7

5-0111-003

chr8:
10584160-10584160

C

T

exonic

De novo

synonymous SNV

NM_031439

c.G255A

p.A85A

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SOX7

200675300_1082034284

chr8:
10583275-10583275

C

T

exonic

De novo

synonymous SNV

NM_031439

c.G1140A

p.T380T

-

-

Fu2022 E

SOX7

Wang2023:811

chr8:
10583994-10583994

C

G

exonic

De novo

nonsynonymous SNV

NM_031439

c.G421C

p.D141H

16.03

-

Wang2023 E

SOX7

2-1318-004

chr8:
10620787-10620787

T

C

intergenic

De novo

-

-

Yuen2017 G

SOX7

200675366_1082034453

chr8:
10583812-10583812

C

T

exonic

De novo

synonymous SNV

NM_031439

c.G603A

p.L201L

-

-

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
	More