Variant Results

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Results for "DHCR7"

Variant Events: 11

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

DHCR7

Li2017:16198

chr11:
71148881-71148881

G

T

exonic

Unknown

nonsynonymous SNV

NM_001163817
NM_001360

c.C940A
c.C940A

p.L314M
p.L314M

16.95

-

Li2017 T

DHCR7

Li2017:17505

chr11:
71146681-71146681

G

A

exonic

Unknown

nonsynonymous SNV

NM_001163817
NM_001360

c.C1168T
c.C1168T

p.H390Y
p.H390Y

16.55

Li2017 T

DHCR7

SP0103039

chr11:
71155312-71155312

C

T

intronic

De novo

-

-

Fu2022 E

DHCR7

Yalcintepe2021:2

chr11:
71148969-71148972

GAAG

G

exonic

nonframeshift deletion

NM_001163817
NM_001360

c.849_851del
c.849_851del

p.283_284del
p.283_284del

-

-

Yalcintepe2021 T

DHCR7

SP0034170

chr11:
71149008-71149008

C

T

intronic

De novo

-

Fu2022 E

DHCR7

AU4029302

chr11:
71146646-71146646

G

A

exonic

De novo

synonymous SNV

NM_001163817
NM_001360

c.C1203T
c.C1203T

p.G401G
p.G401G

12.25

Yuen2017 G

DHCR7

AU4013303

chr11:
71145999-71145999

C

T

UTR3

De novo

-

-

Yuen2017 G

DHCR7

AU049304

chr11:
71152015-71152015

C

G

intronic

De novo

-

-

Yuen2017 G

DHCR7

Yalcintepe2021:7

chr11:
71146861-71146861

C

T

exonic

nonsynonymous SNV

NM_001163817
NM_001360

c.G988A
c.G988A

p.V330M
p.V330M

16.33

Yalcintepe2021 T

DHCR7

G01-GEA-289-HI

chr11:
71146479-71146479

C

T

exonic

De novo

nonsynonymous SNV

NM_001163817
NM_001360

c.G1370A
c.G1370A

p.R457Q
p.R457Q

12.38

-

Fu2022 E
Satterstrom2020 E

DHCR7

Li2017:23727

chr11:
71155917-71155917

G

A

exonic

Unknown

stopgain

NM_001163817
NM_001360

c.C82T
c.C82T

p.Q28X
p.Q28X

33.0

Li2017 T

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
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