Variant Results

or

Results for "PAH"

Variant Events: 32

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

PAH

1-0010-005

chr12:
103339792-103339792

G

A

intergenic

De novo

-

Yuen2017 G

PAH

NDAR_INVZW891AN2_wes1

chr12:
103248917-103248917

G

A

exonic

stopgain

NM_000277

c.C703T

p.Q235X

38.0

-

Doan2019 E

PAH

PN400115

chr12:
103234271-103234271

G

A

exonic

Unknown

nonsynonymous SNV

NM_000277

c.C1222T

p.R408W

19.02

7.0E-4

Leblond2019 E

PAH

PN400108

chr12:
103234271-103234271

G

A

exonic

Unknown

nonsynonymous SNV

NM_000277

c.C1222T

p.R408W

19.02

7.0E-4

Leblond2019 E

PAH

C235803

chr12:
103240737-103240737

T

C

intronic

De novo

-

Fu2022 E

PAH

13695.p1

chr12:
103232983-103232983

G

A

exonic

De novo

synonymous SNV

NM_000277

c.C1329T

p.I443I

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

PAH

PN400289

chr12:
103234271-103234271

G

A

exonic

Unknown

nonsynonymous SNV

NM_000277

c.C1222T

p.R408W

19.02

7.0E-4

Leblond2019 E

PAH

2-1318-004

chr12:
103292681-103292681

T

C

intronic

De novo

-

Yuen2017 G

PAH

iHART2193

chr12:
103246621-103246621

C

A

exonic

Paternal

stopgain

NM_000277

c.G814T

p.G272X

42.0

3.295E-5

Ruzzo2019 G

PAH

iHART2442

chr12:
103246654-103246654

G

A

exonic

Maternal

stopgain

NM_000277

c.C781T

p.R261X

43.0

8.239E-6

Ruzzo2019 G

PAH

iHART2195

chr12:
103246621-103246621

C

A

exonic

Paternal

stopgain

NM_000277

c.G814T

p.G272X

42.0

3.295E-5

Ruzzo2019 G

PAH

PN400489

chr12:
103234271-103234271

G

A

exonic

Unknown

nonsynonymous SNV

NM_000277

c.C1222T

p.R408W

19.02

7.0E-4

Leblond2019 E

PAH

AU-16201

chr12:
103246593-103246593

G

A

exonic

nonsynonymous SNV

NM_000277

c.C842T

p.P281L

27.1

9.884E-5

Doan2019 E

PAH

AU-16201

chr12:
103246653-103246653

C

T

exonic

nonsynonymous SNV

NM_000277

c.G782A

p.R261Q

36.0

3.0E-4

Doan2019 E

PAH

AU-13100

chr12:
103249007-103249028

CATAGCAAGCATGGGTTTTATA

C

exonic

Inherited

nonframeshift deletion

NM_000277

c.592_612del

p.198_204del

-

Yu2013 E

PAH

1-0708-003

chr12:
103334506-103334506

C

T

intergenic

De novo

-

Yuen2017 G

PAH

AU-4100

chr12:
103248917-103248917

G

A

exonic

Inherited

stopgain

NM_000277

c.C703T

p.Q235X

38.0

-

Yu2013 E

PAH

2-0319-004

chr12:
103288718-103288718

G

A

intronic

De novo

-

Yuen2017 G

PAH

04C35712

chr12:
103288718-103288718

G

A

intronic

De novo

-

Satterstrom2020 E

PAH

SSC08088

chr12:
103232983-103232983

G

A

exonic

De novo

synonymous SNV

NM_000277

c.C1329T

p.I443I

-

Fu2022 E
Lim2017 E

PAH

PN400330

chr12:
103234271-103234271

G

A

exonic

Unknown

nonsynonymous SNV

NM_000277

c.C1222T

p.R408W

19.02

7.0E-4

Leblond2019 E

PAH

A6

chr12:
103338195-103338195

T

G

intergenic

De novo

-

Wu2018 G

PAH

7-0256-003

chr12:
103274958-103274963

ATTTTT

ATTTT

intronic

De novo

-

Yuen2017 G

PAH

PN400215

chr12:
103234271-103234271

G

A

exonic

Unknown

nonsynonymous SNV

NM_000277

c.C1222T

p.R408W

19.02

7.0E-4

Leblond2019 E

PAH

1-0826-003

chr12:
103322301-103322301

G

A

intergenic

De novo

-

Yuen2017 G

PAH

1-0007-003

chr12:
103280224-103280227

AAGA

AAGAGA

intronic

De novo

-

Yuen2017 G

PAH

1-0153-005

chr12:
103300628-103300628

T

C

intronic

De novo

-

Yuen2017 G

PAH

1-0006-003

chr12:
103304476-103304476

A

T

intronic

De novo

-

Yuen2017 G

PAH

PN400171

chr12:
103234271-103234271

G

A

exonic

Unknown

nonsynonymous SNV

NM_000277

c.C1222T

p.R408W

19.02

7.0E-4

Leblond2019 E

PAH

NDAR_INVBX440FDB_wes1

chr12:
103248917-103248917

G

A

exonic

stopgain

NM_000277

c.C703T

p.Q235X

38.0

-

Doan2019 E

PAH

PN400391

chr12:
103234271-103234271

G

A

exonic

Unknown

nonsynonymous SNV

NM_000277

c.C1222T

p.R408W

19.02

7.0E-4

Leblond2019 E

PAH

AU3900302

chr12:
103289648-103289649

AT

A

intronic

De novo

-

Yuen2017 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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