Variant Results

or

Results for "C3"

Variant Events: 12

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

C3

11138.p1

chr19:
6697642-6697642

C

T

intronic

De novo

-

Krumm2015 E

C3

09C87630

chr19:
6678390-6678390

G

C

exonic

De novo

nonsynonymous SNV

NM_000064

c.C4707G

p.I1569M

17.54

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E

C3

SP0065049

chr19:
6702536-6702536

A

G

exonic

De novo

nonsynonymous SNV

NM_000064

c.T2300C

p.F767S

18.29

-

Antaki2022 GE
Fu2022 E

C3

08C73566

chr19:
6719371-6719371

C

T

exonic

De novo

nonsynonymous SNV

NM_000064

c.G118A

p.E40K

27.0

8.239E-6

Fu2022 E
Satterstrom2020 E

C3

F9719-1

chr19:
6709656-6709656

T

C

intronic

De novo

-

Satterstrom2020 E

C3

SP0115318

chr19:
6713259-6713259

C

T

exonic

De novo

nonsynonymous SNV

NM_000064

c.G944A

p.R315Q

9.346

3.312E-5

Fu2022 E

C3

SP0107200

chr19:
6690698-6690698

G

A

exonic

De novo

nonsynonymous SNV

NM_000064

c.C3431T

p.T1144M

25.1

4.121E-5

Fu2022 E

C3

14245.p1

chr19:
6709711-6709711

T

G

exonic

De novo

nonsynonymous SNV

NM_000064

c.A1829C

p.K610T

15.02

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G

C3

SP0046982

chr19:
6684979-6684979

G

A

intronic

De novo

-

Fu2022 E

C3

SP0069658

chr19:
6707331-6707331

G

T

intronic

De novo

-

Fu2022 E

C3

SP0031757

chr19:
6697361-6697361

C

T

exonic

De novo

synonymous SNV

NM_000064

c.G2790A

p.K930K

-

Fu2022 E

C3

SSC11115

chr19:
6709711-6709711

T

G

exonic

De novo

nonsynonymous SNV

NM_000064

c.A1829C

p.K610T

15.02

-

Fu2022 E
Lim2017 E

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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