Variant Results

or

or

Results for "PHTF1"

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

PHTF1

AU011021

chr1:
114262564-114262564

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHTF1

iHART1145

chr1:
114243565-114243565

G

A

exonic

Maternal

stopgain

NM_006608

c.C1897T

p.Q633X

41.0

Ruzzo2019 G

PHTF1

iHART1146

chr1:
114243565-114243565

G

A

exonic

Maternal

stopgain

NM_006608

c.C1897T

p.Q633X

41.0

Ruzzo2019 G

PHTF1

TRE_2572

chr1:
114269049-114269049

C

T

exonic

De novo

nonsynonymous SNV

NM_006608

c.G479A

p.R160Q

15.62

-

Fu2022 E

PHTF1

1-0214-003

chr1:
114286380-114286380

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHTF1

AU3638302

chr1:
114242454-114242454

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHTF1

608968451511-C3

chr1:
114255874-114255874

C

T

intronic

De novo

-

Fu2022 E

PHTF1

1-0139-003

chr1:
114299532-114299532

G

A

intronic

De novo

-

-

Yuen2017 G

PHTF1

7-0258-004

chr1:
114299412-114299412

T

C

intronic

De novo

-

-

Trost2022 G

PHTF1

MSSNG00208-003

chr1:
114284908-114284908

T

C

intronic

De novo

-

-

Trost2022 G

PHTF1

mAGRE4589

chr1:
114246790-114246790

C

T

splicing

Paternal

splicing

16.17

Cirnigliaro2023 G

PHTF1

1-0158-003

chr1:
114299650-114299650

G

A

intronic

De novo

-

-

Trost2022 G

PHTF1

mAGRE4370

chr1:
114243565-114243565

G

A

exonic

Paternal

stopgain

NM_006608

c.C1897T

p.Q633X

41.0

Cirnigliaro2023 G

PHTF1

1-0158-003

chr1:
114299645-114299645

C

T

intronic

De novo

-

-

Trost2022 G

PHTF1

mAGRE1146

chr1:
114243565-114243565

G

A

exonic

Maternal

stopgain

NM_006608

c.C1897T

p.Q633X

41.0

Cirnigliaro2023 G

PHTF1

AU4013302

chr1:
114289097-114289097

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PHTF1

1-1006-003A

chr1:
114271897-114271897

G

C

intronic

De novo

-

-

Trost2022 G

PHTF1

mAGRE1145

chr1:
114243565-114243565

G

A

exonic

Maternal

stopgain

NM_006608

c.C1897T

p.Q633X

41.0

Cirnigliaro2023 G

PHTF1

PN400539

chr1:
114246774-114246774

G

A

exonic

De novo

nonsynonymous SNV

NM_006608

c.C1819T

p.R607C

17.04

-

Leblond2019 E

PHTF1

AU2212301

chr1:
114279525-114279525

A

G

intronic

De novo

-

-

Trost2022 G

PHTF1

SJD_8.3

chr1:
114274314-114274314

G

A

intronic

De novo

-

-

Trost2022 G

PHTF1

1-0158-003

chr1:
114299657-114299657

T

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
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