Variant Results

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or

Results for "DCHS1"

Variant Events: 20

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

DCHS1

3-0075-000

chr11:
6644563-6644563

G

A

exonic

De novo

nonsynonymous SNV

NM_003737

c.C8344T

p.R2782W

12.23

Tammimies2015 E

DCHS1

SP0143269

chr11:
6645634-6645634

C

T

intronic

De novo

-

-

Fu2022 E

DCHS1

AU3175302

chr11:
6661868-6661868

C

T

exonic

De novo

nonsynonymous SNV

NM_003737

c.G977A

p.R326Q

15.65

-

Cirnigliaro2023 G

DCHS1

SJD_50

chr11:
6661841-6661841

C

T

exonic

Maternal

nonsynonymous SNV

NM_003737

c.G1004A

p.R335Q

16.1

Toma2013 E

DCHS1

SP0198529

chr11:
6661959-6661959

G

A

exonic

De novo

nonsynonymous SNV

NM_003737

c.C886T

p.R296W

16.92

Trost2022 G

DCHS1

1-0928-003

chr11:
6673672-6673672

A

G

intronic

De novo

-

-

Trost2022 G

DCHS1

1-1158-003

chr11:
6659376-6659376

A

G

intronic

De novo

-

-

Trost2022 G

DCHS1

MSSNG00374-003

chr11:
6660048-6660048

C

A

intronic

De novo

-

-

Trost2022 G

DCHS1

1-0389-003

chr11:
6661550-6661550

C

T

exonic

De novo

nonsynonymous SNV

NM_003737

c.G1295A

p.R432Q

23.5

-

Yuen2015 G

DCHS1

AU3997301

chr11:
6681049-6681049

T

C

intergenic

De novo

-

-

Yuen2017 G

DCHS1

SP0071170

chr11:
6653892-6653892

G

A

exonic

De novo

nonsynonymous SNV

NM_003737

c.C2851T

p.R951W

15.27

Fu2022 E
Trost2022 G
Zhou2022 GE

DCHS1

PN400220

chr11:
6653994-6653994

G

A

exonic

Unknown

nonsynonymous SNV

NM_003737

c.C2749T

p.R917W

19.24

Leblond2019 E

DCHS1

SP0004092

chr11:
6652952-6652952

G

A

exonic

De novo

synonymous SNV

NM_003737

c.C3570T

p.P1190P

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DCHS1

PN400343

chr11:
6653994-6653994

G

A

exonic

Unknown

nonsynonymous SNV

NM_003737

c.C2749T

p.R917W

19.24

Leblond2019 E

DCHS1

Cukier2014:18074

chr11:
6661600-6661600

G

T

exonic

Unknown

nonsynonymous SNV

NM_003737

c.C1245A

p.S415R

15.53

Cukier2014 E

DCHS1

4-0062-003

chr11:
6645834-6645836

GGA

AAT

intronic

De novo

-

-

Trost2022 G

DCHS1

SP0244175

chr11:
6654182-6654182

C

T

exonic

De novo

nonsynonymous SNV

NM_003737

c.G2561A

p.R854Q

17.66

Trost2022 G

DCHS1

SP0178352

chr11:
6644258-6644258

G

A

exonic

De novo

synonymous SNV

NM_003737

c.C8649T

p.T2883T

-

-

Trost2022 G

DCHS1

T2T9E-01

chr11:
6645634-6645634

C

T

intronic

De novo

-

-

Trost2022 G

DCHS1

AU2415301

chr11:
6653374-6653374

G

A

exonic

De novo

synonymous SNV

NM_003737

c.C3369T

p.S1123S

-

Trost2022 G
Zhou2022 GE

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
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