Variant Results

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Results for "DHCR24"

Variant Events: 19

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

DHCR24

DEASD_0414_001

chr1:
55341574-55341574

G

C

intronic

De novo

-

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

DHCR24

1-0498-003

chr1:
55365132-55365132

A

G

intergenic

De novo

-

-

Yuen2017 G

DHCR24

PN400301

chr1:
55337283-55337283

C

T

exonic

Unknown

nonsynonymous SNV

NM_014762

c.G616A

p.E206K

25.1

Leblond2019 E

DHCR24

PN400190

chr1:
55337283-55337283

C

T

exonic

Unknown

nonsynonymous SNV

NM_014762

c.G616A

p.E206K

25.1

Leblond2019 E

DHCR24

PN400416

chr1:
55337283-55337283

C

T

exonic

Unknown

nonsynonymous SNV

NM_014762

c.G616A

p.E206K

25.1

Leblond2019 E

DHCR24

2-0057-003

chr1:
55314662-55314662

A

AGG

downstream

De novo

-

-

Trost2022 G

DHCR24

2-0057-003

chr1:
55314656-55314656

T

TGAG

downstream

De novo

-

-

Trost2022 G

DHCR24

2-1359-003

chr1:
55428292-55428292

C

T

intergenic

De novo

-

-

Yuen2017 G

DHCR24

12198.p1

chr1:
55337173-55337173

G

C

exonic

De novo

nonsynonymous SNV

NM_014762

c.C726G

p.F242L

12.88

-

Ji2016 E
Krumm2015 E

DHCR24

AU2525302

chr1:
55315183-55315183

C

T

downstream

De novo

-

-

Yuen2017 G

DHCR24

PN400480

chr1:
55337283-55337283

C

T

exonic

Unknown

nonsynonymous SNV

NM_014762

c.G616A

p.E206K

25.1

Leblond2019 E

DHCR24

PN400582

chr1:
55337283-55337283

C

T

exonic

Unknown

nonsynonymous SNV

NM_014762

c.G616A

p.E206K

25.1

Leblond2019 E

DHCR24

2-1425-004

chr1:
55346494-55346494

T

TA

intronic

De novo

-

-

Trost2022 G

DHCR24

PN400194

chr1:
55337283-55337283

C

T

exonic

Unknown

nonsynonymous SNV

NM_014762

c.G616A

p.E206K

25.1

Leblond2019 E

DHCR24

MSSNG00372-003

chr1:
55335768-55335768

G

A

intronic

De novo

-

-

Trost2022 G

DHCR24

2-1737-003

chr1:
55385575-55385575

T

C

intergenic

De novo

-

-

Yuen2017 G

DHCR24

PN400195

chr1:
55337283-55337283

C

T

exonic

Unknown

nonsynonymous SNV

NM_014762

c.G616A

p.E206K

25.1

Leblond2019 E

DHCR24

2-0144-004

chr1:
55369022-55369022

G

GGTT

intergenic

De novo

-

-

Yuen2017 G

DHCR24

2-0122-003

chr1:
55420790-55420790

C

A

intergenic

De novo

-

-

Yuen2017 G

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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