Variant Results

or

Results for "CEMIP"

Variant Events: 29

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

CEMIP

5-5071-003

chr15:
81074958-81074958

G

T

intronic

De novo

-

Trost2022 G

CEMIP

1-0088-003

chr15:
81077339-81077339

A

G

intronic

De novo

-

Trost2022 G

CEMIP

mAGRE4143

chr15:
81221476-81221477

GC

G

exonic

Paternal

frameshift deletion

NM_018689
NM_001293298
NM_001293304

c.2574delC
c.2574delC
c.2574delC

p.G858fs
p.G858fs
p.G858fs

-

Cirnigliaro2023 G

CEMIP

mAGRE2731

chr15:
81214479-81214479

G

C

splicing

Paternal

splicing

24.5

-

Cirnigliaro2023 G

CEMIP

AU4412302

chr15:
81098388-81098388

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEMIP

iHART2731

chr15:
81214479-81214479

G

C

splicing

Paternal

splicing

24.5

-

Ruzzo2019 G

CEMIP

1-0233-004

chr15:
81230224-81230224

C

T

exonic

De novo

nonsynonymous SNV

NM_018689
NM_001293298
NM_001293304

c.C3311T
c.C3311T
c.C3311T

p.T1104M
p.T1104M
p.T1104M

17.35

2.475E-5

Yuen2017 G
Zhou2022 GE

CEMIP

MSSNG00169-003

chr15:
81200770-81200772

CTT

C

intronic

De novo

-

Trost2022 G

CEMIP

4-0004-003

chr15:
81212277-81212277

T

G

intronic

De novo

-

Trost2022 G

CEMIP

10C108727

chr15:
81230224-81230224

C

T

exonic

De novo

nonsynonymous SNV

NM_018689
NM_001293298
NM_001293304

c.C3311T
c.C3311T
c.C3311T

p.T1104M
p.T1104M
p.T1104M

17.35

2.475E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CEMIP

MT_31.3

chr15:
81183914-81183914

T

G

intronic

De novo

-

Trost2022 G

CEMIP

MSSNG00224-003

chr15:
81188581-81188581

G

T

intronic

De novo

-

Trost2022 G

CEMIP

200675674_1082034765

chr15:
81224214-81224214

G

C

exonic

De novo

nonsynonymous SNV

NM_018689
NM_001293298
NM_001293304

c.G2627C
c.G2627C
c.G2627C

p.R876T
p.R876T
p.R876T

16.11

-

Fu2022 E

CEMIP

5-5233-003

chr15:
81148299-81148299

C

T

intronic

De novo

-

Trost2022 G

CEMIP

MSSNG00111-003

chr15:
81157304-81157304

T

G

intronic

De novo

-

Trost2022 G

CEMIP

7-0232-003

chr15:
81095929-81095929

A

G

intronic

De novo

-

Trost2022 G

CEMIP

13857_p1

chr15:
81218090-81218090

G

C

exonic

De novo

nonsynonymous SNV

NM_018689
NM_001293298
NM_001293304

c.G2414C
c.G2414C
c.G2414C

p.S805T
p.S805T
p.S805T

14.46

-

Fu2022 E

CEMIP

1-1054-003

chr15:
81143219-81143219

A

T

intronic

De novo

-

Trost2022 G

CEMIP

7-0342-004

chr15:
81229670-81229670

A

G

intronic

De novo

-

Trost2022 G

CEMIP

4-0073-003

chr15:
81213608-81213608

G

A

intronic

De novo

-

Trost2022 G

CEMIP

MSSNG00355-004

chr15:
81218784-81218784

A

G

intronic

De novo

-

Trost2022 G

CEMIP

2-1398-004

chr15:
81112768-81112768

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEMIP

7-0253-004

chr15:
81115904-81115904

C

T

intronic

De novo

-

Yuen2017 G

CEMIP

7-0253-004

chr15:
81234421-81234421

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEMIP

7-0255-003

chr15:
81228654-81228671

TTCTCTCTCTCTCTCTCT

TTCTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

CEMIP

2-1264-003

chr15:
81199991-81199991

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CEMIP

Chen2017:104

chr15:
81224214-81224214

G

C

exonic

De novo

nonsynonymous SNV

NM_018689
NM_001293298
NM_001293304

c.G2627C
c.G2627C
c.G2627C

p.R876T
p.R876T
p.R876T

16.11

-

Chen2017 E

CEMIP

SP0011905

chr15:
81224214-81224214

G

C

exonic

nonsynonymous SNV

NM_018689
NM_001293298
NM_001293304

c.G2627C
c.G2627C
c.G2627C

p.R876T
p.R876T
p.R876T

16.11

-

Zhou2022 GE

CEMIP

SP0013518

chr15:
81212565-81212565

G

A

exonic

nonsynonymous SNV

NM_018689
NM_001293298
NM_001293304

c.G1928A
c.G1928A
c.G1928A

p.R643H
p.R643H
p.R643H

27.1

-

Zhou2022 GE

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
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