Variant Results

or

or

Results for "PHTF2"

Variant Events: 22

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

PHTF2

5-5119-003

chr7:
77447564-77447564

C

T

intronic

De novo

-

-

Trost2022 G

PHTF2

5-5119-003

chr7:
77447866-77447866

A

G

intronic

De novo

-

-

Trost2022 G

PHTF2

MT_167.3

chr7:
77437211-77437211

T

G

intronic

De novo

-

-

Trost2022 G

PHTF2

13023.p1

chr7:
77644281-77644281

C

A

intergenic

De novo

-

-

Turner2016 G

PHTF2

1-0300-003

chr7:
77527584-77527584

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHTF2

2-1235-004

chr7:
77488065-77488065

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHTF2

AU076704

chr7:
77624227-77624227

G

A

intergenic

De novo

-

-

Yuen2017 G

PHTF2

2-0159-003

chr7:
77565809-77565809

T

A

intronic

De novo

-

-

Trost2022 G

PHTF2

2-1350-004

chr7:
77565859-77565862

TGGG

CTCA

intronic

De novo

-

-

Trost2022 G

PHTF2

AU4379301

chr7:
77551330-77551330

A

T

intronic

De novo

-

-

Trost2022 G

PHTF2

2-0159-003

chr7:
77565803-77565804

TC

CT

intronic

De novo

-

-

Trost2022 G

PHTF2

AU2212301

chr7:
77527143-77527143

G

T

intronic

De novo

-

-

Trost2022 G

PHTF2

2-1723-003

chr7:
77535667-77535668

CG

GA

intronic

De novo

-

-

Trost2022 G

PHTF2

3-0107-001

chr7:
77481501-77481501

C

T

intronic

De novo

-

-

Trost2022 G

PHTF2

11003.p1

chr7:
77572116-77572116

G

A

intronic

Mosaic

-

-

Dou2017 E

PHTF2

SP0137258

chr7:
77579153-77579153

G

A

intronic

-

-

Zhou2022 GE

PHTF2

3-0025-000

chr7:
77525429-77525429

G

GCTTA

intronic

De novo

-

-

Trost2022 G

PHTF2

REACH000678

chr7:
77574739-77574740

CT

C

intronic

De novo

-

-

Trost2022 G

PHTF2

2-1350-004

chr7:
77565879-77565881

TAC

ACT

intronic

De novo

-

-

Trost2022 G

PHTF2

2-1548-003

chr7:
77566257-77566259

TTA

ATC

intronic

De novo

-

-

Trost2022 G

PHTF2

1-0555-003

chr7:
77525429-77525429

G

GCTTA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHTF2

AU3637301

chr7:
77552094-77552094

A

G

exonic

De novo

nonsynonymous SNV

NM_020432
NM_001127357
NM_001127358
NM_001127359
NM_001127360

c.A1004G
c.A1016G
c.A1004G
c.A1016G
c.A1004G

p.E335G
p.E339G
p.E335G
p.E339G
p.E335G

26.5

-

Trost2022 G
Yuen2017 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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