Variant Results

or

Results for "TMEM39B"

Variant Events: 15

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

TMEM39B

1-0972-003

chr1:
32542930-32542930

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM39B

Costa2023:P5-1

chr1:
32557419-32557419

C

T

exonic

De novo

nonsynonymous SNV

NM_018056

c.C734T

p.T245M

22.7

1.0E-4

Costa2023 E

TMEM39B

2-1362-003

chr1:
32544475-32544477

CAA

C

intronic

De novo

-

Trost2022 G

TMEM39B

1-0265-003

chr1:
32545130-32545130

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM39B

2-0298-003

chr1:
32544493-32544495

TGT

CAG

intronic

De novo

-

Trost2022 G

TMEM39B

2-0298-003

chr1:
32544475-32544477

CAA

C

intronic

De novo

-

Trost2022 G

TMEM39B

SSC11925

chr1:
32542858-32542858

C

T

exonic

De novo

stopgain

NM_018056

c.C529T

p.R177X

35.0

-

Fu2022 E
Lim2017 E
Trost2022 G

TMEM39B

UK10K_SKUSE5080230

chr1:
32557520-32557520

A

G

exonic

De novo

nonsynonymous SNV

NM_018056

c.A835G

p.K279E

35.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TMEM39B

iHART1995

chr1:
32542368-32542369

TC

T

exonic

Maternal

frameshift deletion

NM_018056

c.357delC

p.F119fs

-

Ruzzo2019 G

TMEM39B

3C140

chr1:
32538610-32538610

G

A

UTR5

De novo

-

2.0E-4

Satterstrom2020 E
Trost2022 G

TMEM39B

4-0046-003

chr1:
32555902-32555902

G

C

intronic

De novo

-

Trost2022 G

TMEM39B

1-0265-004

chr1:
32545130-32545130

C

T

intronic

De novo

-

Yuen2017 G

TMEM39B

1-0508-003

chr1:
32557969-32557969

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM39B

14467.p1

chr1:
32542858-32542858

C

T

exonic

De novo

stopgain

NM_018056

c.C529T

p.R177X

35.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TMEM39B

mAGRE1995

chr1:
32542368-32542369

TC

T

exonic

Maternal

frameshift deletion

NM_018056

c.357delC

p.F119fs

-

Cirnigliaro2023 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
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