Variant Results

or

or

Results for "ADAM33"

Variant Events: 13

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

ADAM33

mAGRE5500

chr20:
3654144-3654144

C

T

splicing

Paternal

splicing

13.87

-

Cirnigliaro2023 G

ADAM33

AU4015303

chr20:
3650251-3650252

CA

C

exonic

Paternal

frameshift deletion

NM_153202
NM_001282447
NM_025220

c.2195delT
c.2273delT
c.2273delT

p.L732fs
p.L758fs
p.L758fs

-

-

Cirnigliaro2023 G

ADAM33

AU4015302

chr20:
3650251-3650252

CA

C

exonic

Paternal

frameshift deletion

NM_153202
NM_001282447
NM_025220

c.2195delT
c.2273delT
c.2273delT

p.L732fs
p.L758fs
p.L758fs

-

-

Cirnigliaro2023 G

ADAM33

SP0007786

chr20:
3657702-3657702

C

G

intronic

De novo

-

-

Trost2022 G

ADAM33

AU4015301

chr20:
3650251-3650252

CA

C

exonic

Paternal

frameshift deletion

NM_153202
NM_001282447
NM_025220

c.2195delT
c.2273delT
c.2273delT

p.L732fs
p.L758fs
p.L758fs

-

-

Cirnigliaro2023 G

ADAM33

1-0571-003

chr20:
3657548-3657548

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ADAM33

12561.p1

chr20:
3655475-3655475

G

A

exonic

De novo

stopgain

NM_001282447
NM_025220
NM_153202

c.C355T
c.C355T
c.C355T

p.R119X
p.R119X
p.R119X

18.17

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Willsey2013 E
Zhou2022 GE

ADAM33

2-1194-003

chr20:
3659687-3659687

G

C

intronic

De novo

-

-

Yuen2017 G

ADAM33

iHART3256

chr20:
3650251-3650252

CA

C

exonic

Paternal

frameshift deletion

NM_153202
NM_001282447
NM_025220

c.2195delT
c.2273delT
c.2273delT

p.L732fs
p.L758fs
p.L758fs

-

-

Ruzzo2019 G

ADAM33

DEASD_2169_001

chr20:
3654216-3654216

C

T

intronic

De novo

-

Fu2022 E

ADAM33

iHART3255

chr20:
3650251-3650252

CA

C

exonic

Paternal

frameshift deletion

NM_153202
NM_001282447
NM_025220

c.2195delT
c.2273delT
c.2273delT

p.L732fs
p.L758fs
p.L758fs

-

-

Ruzzo2019 G

ADAM33

iHART3252

chr20:
3650251-3650252

CA

C

exonic

Paternal

frameshift deletion

NM_153202
NM_001282447
NM_025220

c.2195delT
c.2273delT
c.2273delT

p.L732fs
p.L758fs
p.L758fs

-

-

Ruzzo2019 G

ADAM33

SP0046164

chr20:
3655527-3655527

A

C

intronic

De novo

-

-

Trost2022 G

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
	More