Variant Results

or

Results for "ZWILCH"

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

ZWILCH

iHART2367

chr15:
66832550-66832550

T

C

splicing

Maternal

splicing

13.89

2.493E-5

Ruzzo2019 G

ZWILCH

SSC10431

chr15:
66838947-66838947

T

TG

exonic

De novo

frameshift insertion

NM_001287822
NM_001287823
NM_001287821
NM_017975

c.1364_1365insG
c.1364_1365insG
c.1364_1365insG
c.1706_1707insG

p.L455fs
p.L455fs
p.L455fs
p.L569fs

-

Trost2022 G

ZWILCH

12859.p1

Complex Event; expand row to view variants

De novo

-

8.259E-6

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ZWILCH

REACH000258

chr15:
66828691-66828691

C

T

intronic

De novo

-

Trost2022 G

ZWILCH

14175.p1

Complex Event; expand row to view variants

De novo

stopgain, frameshift insertion, nonframeshift substitution

NM_001287822
NM_001287823
NM_001287821
NM_017975
NM_001287822
NM_001287823
NM_001287821
NM_017975
NM_001287822
NM_001287823
NM_001287821
NM_017975
NM_001287822
NM_001287823
NM_001287821
NM_017975

c.1364_1365insG
c.1364_1365insG
c.1364_1365insG
c.1706_1707insG
c.1365_1366insG
c.1365_1366insG
c.1365_1366insG
c.1707_1708insG
c.1364_1365insGTAATTCCTGTGTTAACACTG
c.1364_1365insGTAATTCCTGTGTTAACACTG
c.1364_1365insGTAATTCCTGTGTTAACACTG
c.1706_1707insGTAATTCCTGTGTTAACACTG
c.1365_1365delinsGTAATTCCTGTGTTAACACTGT
c.1365_1365delinsGTAATTCCTGTGTTAACACTGT
c.1365_1365delinsGTAATTCCTGTGTTAACACTGT
c.1707_1707delinsGTAATTCCTGTGTTAACACTGT

p.L455fs
p.L455fs
p.L455fs
p.L569fs
p.L455fs
p.L455fs
p.L455fs
p.L569fs
p.L455delinsLX
p.L455delinsLX
p.L455delinsLX
p.L569delinsLX
N/A
N/A
N/A
N/A

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ZWILCH

1031

chr15:
66834604-66834604

C

T

intronic

De novo

-

Trost2022 G

ZWILCH

iHART2366

chr15:
66832550-66832550

T

C

splicing

Maternal

splicing

13.89

2.493E-5

Ruzzo2019 G

ZWILCH

SSC06092

chr15:
66813380-66813382

CTT

C

intronic

De novo

-

8.259E-6

Trost2022 G

ZWILCH

iHART3051

chr15:
66820193-66820193

A

G

splicing

Maternal

splicing

17.94

-

Ruzzo2019 G

ZWILCH

MSSNG00354-004

chr15:
66827011-66827011

G

A

intronic

De novo

-

Trost2022 G

ZWILCH

AU3051303

chr15:
66820193-66820193

A

G

splicing

Maternal

splicing

17.94

-

Cirnigliaro2023 G

ZWILCH

1-0551-003

chr15:
66809135-66809135

C

T

intronic

De novo

-

Yuen2017 G

ZWILCH

2-0070-003

chr15:
66821214-66821214

G

GC

exonic

De novo

frameshift insertion

NM_001287822
NM_001287823
NM_001287821
NM_017975

c.652_653insC
c.652_653insC
c.652_653insC
c.994_995insC

p.V218fs
p.V218fs
p.V218fs
p.V332fs

-

Yuen2015 G

ZWILCH

mAGRE2367

chr15:
66832550-66832550

T

C

splicing

Maternal

splicing

13.89

2.493E-5

Cirnigliaro2023 G

ZWILCH

7-0100-003

chr15:
66803818-66803818

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZWILCH

mAGRE2366

chr15:
66832550-66832550

T

C

splicing

Maternal

splicing

13.89

2.493E-5

Cirnigliaro2023 G

ZWILCH

1034

chr15:
66802751-66802751

G

A

intronic

De novo

-

Trost2022 G

ZWILCH

5-5024-003

chr15:
66809696-66809696

A

G

intronic

De novo

-

Trost2022 G

ZWILCH

SP0130223

chr15:
66832473-66832473

G

A

exonic

De novo

nonsynonymous SNV

NM_001287822
NM_001287823
NM_001287821
NM_017975

c.G1270A
c.G1270A
c.G1270A
c.G1612A

p.G424S
p.G424S
p.G424S
p.G538S

11.33

3.296E-5

Fu2022 E
Trost2022 G
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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