Variant Results

or

Results for "TERF2"

Variant Events: 14

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

TERF2

SP0235211

chr16:
69419510-69419511

CG

C

exonic

De novo

frameshift deletion

NM_005652

c.364delC

p.R122fs

-

Trost2022 G

TERF2

1026

chr16:
69388843-69388843

T

G

downstream

De novo

-

Trost2022 G

TERF2

10-0005-003

chr16:
69403049-69403052

GTTA

ATCAGT

intronic

De novo

-

Trost2022 G

TERF2

Lim2017:37038

chr16:
69404384-69404384

A

G

splicing

De novo

splicing

16.87

-

Lim2017 E

TERF2

SSC12759

chr16:
69404384-69404384

A

G

splicing

16.87

-

Antaki2022 GE

TERF2

REACH000533

chr16:
69400718-69400718

C

A

exonic

nonsynonymous SNV

NM_005652

c.G1332T

p.K444N

15.06

-

Zhou2022 GE

TERF2

11084.p1

chr16:
69401013-69401013

G

C

exonic

De novo

nonsynonymous SNV

NM_005652

c.C1037G

p.A346G

18.21

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TERF2

14620.p1

chr16:
69404384-69404384

A

G

splicing

De novo

splicing

16.87

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TERF2

mAGRE4147

chr16:
69418564-69418566

GAT

G

exonic

Paternal

frameshift deletion

NM_005652

c.523_524del

p.I175fs

-

Cirnigliaro2023 G

TERF2

SMHC01065s000

chr16:
69395351-69395351

T

C

exonic

De novo

nonsynonymous SNV

NM_005652

c.A1382G

p.E461G

9.719

-

Yuan2023 E

TERF2

11084_p1

chr16:
69401013-69401013

G

C

exonic

De novo

nonsynonymous SNV

NM_005652

c.C1037G

p.A346G

18.21

-

Fu2022 E

TERF2

2-1134-003

chr16:
69426177-69426177

A

G

intergenic

De novo

-

Yuen2017 G

TERF2

SP0014690

chr16:
69402368-69402368

C

T

exonic

De novo

synonymous SNV

NM_005652

c.G858A

p.L286L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TERF2

37038

chr16:
69404384-69404384

A

G

splicing

De novo

splicing

16.87

-

Fu2022 E
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
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