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Results for "PAH"

Variant Events: 49

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     NDAR_INVZW891AN2_wes1chr12:
103248917-103248917		GAexonicstopgainNM_000277c.C703Tp.Q235X38.0-Doan2019 E
PAH     1-0153-005Achr12:
103300628-103300628		TCintronicDe novo--Trost2022 G
PAH     5-0134-003chr12:
103312811-103312811		GAintergenicDe novo--Trost2022 G
PAH     PN400289chr12:
103234271-103234271		GAexonicUnknownnonsynonymous SNVNM_000277c.C1222Tp.R408W19.027.0E-4Leblond2019 E
PAH     2-1318-004chr12:
103292681-103292681		TCintronicDe novo--Trost2022 G
Yuen2017 G
PAH     iHART2193chr12:
103246621-103246621		CAexonicPaternalstopgainNM_000277c.G814Tp.G272X42.03.295E-5Ruzzo2019 G
PAH     iHART2442chr12:
103246654-103246654		GAexonicMaternalstopgainNM_000277c.C781Tp.R261X43.08.239E-6Ruzzo2019 G
PAH     iHART2195chr12:
103246621-103246621		CAexonicPaternalstopgainNM_000277c.G814Tp.G272X42.03.295E-5Ruzzo2019 G
PAH     AU-16201chr12:
103246593-103246593		GAexonicnonsynonymous SNVNM_000277c.C842Tp.P281L27.19.884E-5Doan2019 E
PAH     AU-16201chr12:
103246653-103246653		CTexonicnonsynonymous SNVNM_000277c.G782Ap.R261Q36.03.0E-4Doan2019 E
PAH     1-0708-003chr12:
103334506-103334506		CTintergenicDe novo--Yuen2017 G
PAH     04C35712chr12:
103288718-103288718		GAintronicDe novo--Satterstrom2020 E
Trost2022 G
PAH     7-0256-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
PAH     1-0826-003chr12:
103322301-103322301		GAintergenicDe novo--Trost2022 G
Yuen2017 G
PAH     1-0007-003chr12:
103280224-103280227		AAGAAAGAGAintronicDe novo--Yuen2017 G
PAH     1-0006-003chr12:
103304476-103304476		ATintronicDe novo--Trost2022 G
Yuen2017 G
PAH     PN400171chr12:
103234271-103234271		GAexonicUnknownnonsynonymous SNVNM_000277c.C1222Tp.R408W19.027.0E-4Leblond2019 E
PAH     mAGRE4869chr12:
103238123-103238124		ACAexonicMaternalframeshift deletionNM_000277c.1055delGp.G352fs-8.351E-6Cirnigliaro2023 G
PAH     1-0010-005chr12:
103339792-103339792		GAintergenicDe novo--Trost2022 G
Yuen2017 G
PAH     PN400115chr12:
103234271-103234271		GAexonicUnknownnonsynonymous SNVNM_000277c.C1222Tp.R408W19.027.0E-4Leblond2019 E
PAH     PN400108chr12:
103234271-103234271		GAexonicUnknownnonsynonymous SNVNM_000277c.C1222Tp.R408W19.027.0E-4Leblond2019 E
PAH     C235803chr12:
103240737-103240737		TCintronicDe novo--Fu2022 E
PAH     mAGRE4936chr12:
103249059-103249059		CTexonicMaternalstopgainNM_000277c.G561Ap.W187X32.0-Cirnigliaro2023 G
PAH     mAGRE2442chr12:
103246654-103246654		GAexonicMaternalstopgainNM_000277c.C781Tp.R261X43.08.239E-6Cirnigliaro2023 G
PAH     mAGRE2195chr12:
103246621-103246621		CAexonicPaternalstopgainNM_000277c.G814Tp.G272X42.03.295E-5Cirnigliaro2023 G
PAH     mAGRE2193chr12:
103246621-103246621		CAexonicPaternalstopgainNM_000277c.G814Tp.G272X42.03.295E-5Cirnigliaro2023 G
PAH     13695.p1chr12:
103232983-103232983		GAexonicDe novosynonymous SNVNM_000277c.C1329Tp.I443I--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
PAH     PN400489chr12:
103234271-103234271		GAexonicUnknownnonsynonymous SNVNM_000277c.C1222Tp.R408W19.027.0E-4Leblond2019 E
PAH     AU-13100chr12:
103249007-103249028		CATAGCAAGCATGGGTTTTATACexonicInheritednonframeshift deletionNM_000277c.592_612delp.198_204del--Yu2013 E
PAH     AU-4100chr12:
103248917-103248917		GAexonicInheritedstopgainNM_000277c.C703Tp.Q235X38.0-Yu2013 E
PAH     2-0319-004chr12:
103288718-103288718		GAintronicDe novo--Yuen2017 G
PAH     SSC08088chr12:
103232983-103232983		GAexonicDe novosynonymous SNVNM_000277c.C1329Tp.I443I--Fu2022 E
Lim2017 E
Trost2022 G
PAH     PN400330chr12:
103234271-103234271		GAexonicUnknownnonsynonymous SNVNM_000277c.C1222Tp.R408W19.027.0E-4Leblond2019 E
PAH     A6chr12:
103338195-103338195		TGintergenicDe novo--Wu2018 G
PAH     PN400215chr12:
103234271-103234271		GAexonicUnknownnonsynonymous SNVNM_000277c.C1222Tp.R408W19.027.0E-4Leblond2019 E
PAH     3-0153-000chr12:
103242418-103242418		TCintronicDe novo--Trost2022 G
PAH     7-0353-003chr12:
103254433-103254433		AGintronicDe novo--Trost2022 G
PAH     1-0153-005chr12:
103300628-103300628		TCintronicDe novo--Yuen2017 G
PAH     AU3057301chr12:
103286762-103286762		TTAintronicDe novo--Trost2022 G
PAH     MSSNG00035-003chr12:
103299573-103299573		CTintronicDe novo--Trost2022 G
PAH     NDAR_INVBX440FDB_wes1chr12:
103248917-103248917		GAexonicstopgainNM_000277c.C703Tp.Q235X38.0-Doan2019 E
PAH     REACH000341chr12:
103270312-103270312		ACintronicDe novo--Trost2022 G
PAH     REACH000319chr12:
103275328-103275328		ACintronicDe novo--Trost2022 G
PAH     PN400391chr12:
103234271-103234271		GAexonicUnknownnonsynonymous SNVNM_000277c.C1222Tp.R408W19.027.0E-4Leblond2019 E
PAH     5-0085-003chr12:
103262331-103262331		GTintronicDe novo--Trost2022 G
PAH     AU3900302chr12:
103289648-103289649		ATAintronicDe novo--Yuen2017 G
PAH     MSSNG00085-003chr12:
103268844-103268844		AGintronicDe novo--Trost2022 G
PAH     AU4006302 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
PAH     MSSNG00352-003chr12:
103261805-103261805		CGintronicDe novo--Trost2022 G
Source Variant Information

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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
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