Variant Results

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Results for "Yalcintepe2021"

Variant Events: 14

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

AMT

Yalcintepe2021:3

chr3:
49455407-49455407

C

T

splicing

splicing

16.5

Yalcintepe2021 T

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

VPS13B

Yalcintepe2021:5

chr8:
100866182-100866182

C

T

exonic

Maternal

nonsynonymous SNV

NM_017890
NM_152564

c.C10640T
c.C10565T

p.T3547I
p.T3522I

19.16

Yalcintepe2021 T

MED12

Yalcintepe2021:4

chrX:
70346204-70346204

T

G

exonic

De novo

nonsynonymous SNV

NM_005120

c.T2555G

p.V852G

17.14

-

Yalcintepe2021 T

ANKRD11

Yalcintepe2021:1

chr16:
89345596-89345596

G

A

exonic

De novo

nonsynonymous SNV

NM_001256183
NM_013275
NM_001256182

c.C7354T
c.C7354T
c.C7354T

p.R2452C
p.R2452C
p.R2452C

18.64

-

Yalcintepe2021 T

CREBBP

Yalcintepe2021:20

chr16:
3831226-3831226

G

T

exonic

nonsynonymous SNV

NM_001079846
NM_004380

c.C1541A
c.C1655A

p.P514Q
p.P552Q

14.95

-

Yalcintepe2021 T

ALDH5A1

Yalcintepe2021:9

chr6:
24495468-24495468

G

A

exonic

nonsynonymous SNV

NM_001080
NM_170740

c.G244A
c.G244A

p.A82T
p.A82T

15.32

-

Yalcintepe2021 T

CHD7

Yalcintepe2021:12

chr8:
61654404-61654404

T

C

exonic

nonsynonymous SNV

NM_001316690
NM_017780

c.T413C
c.T413C

p.F138S
p.F138S

13.98

-

Yalcintepe2021 T

NSD1

Yalcintepe2021:11

chr5:
176631127-176631127

A

G

exonic

nonsynonymous SNV

NM_022455
NM_172349

c.A1070G
c.A263G

p.N357S
p.N88S

13.05

Yalcintepe2021 T

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

SETD2

Yalcintepe2021:6

chr3:
47164649-47164649

G

C

exonic

nonsynonymous SNV

NM_014159

c.C1477G

p.R493G

13.78

-

Yalcintepe2021 T

MED12

Yalcintepe2021:8

chrX:
70357201-70357201

C

G

exonic

nonsynonymous SNV

NM_005120

c.C5716G

p.P1906A

9.35

-

Yalcintepe2021 T

GRIP1

Yalcintepe2021:7

chr12:
66935707-66935707

C

T

exonic

nonsynonymous SNV

NM_001178074
NM_021150

c.G160A
c.G160A

p.V54I
p.V54I

19.12

Yalcintepe2021 T

CHD7

Yalcintepe2021:13

chr8:
61655415-61655415

T

A

exonic

nonsynonymous SNV

NM_001316690
NM_017780

c.T1424A
c.T1424A

p.M475K
p.M475K

17.35

-

Yalcintepe2021 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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