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Results for "PITX2"

Variant Events: 76

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
PITX2     1-0454-003chr4:
112703389-112703389
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
PITX2     AU072004chr4:
112019247-112019247
GTintergenicDe novo--Yuen2017 G
PITX2     AU2129301chr4:
112310226-112310226
CTintergenicDe novo--Yuen2017 G
PITX2     AU4365302chr4:
111722564-111722564
GCintergenicDe novo--Yuen2017 G
PITX2     1-0377-003chr4:
112698434-112698434
GTintergenicDe novo--Yuen2017 G
PITX2     AU057405chr4:
111838205-111838205
ACintergenicDe novo--Yuen2017 G
PITX2     AU4379301chr4:
111762232-111762235
CTTTCTTintergenicDe novo--Yuen2017 G
PITX2     2-0007-003chr4:
112114882-112114882
AGintergenicDe novo--Yuen2017 G
PITX2     AU079204chr4:
111833702-111833702
TGintergenicDe novo--Yuen2017 G
PITX2     1-0092-003chr4:
112360836-112360836
CCTGTTintergenicDe novo--Yuen2017 G
PITX2     1-0464-003chr4:
112684478-112684479
GTGintergenicDe novo--Yuen2016 G
PITX2     AU2433303chr4:
111975490-111975490
GCintergenicDe novo--Yuen2017 G
PITX2     1-0300-003chr4:
112722154-112722154
ACintergenicDe novo--Yuen2017 G
PITX2     AU4072303chr4:
112323222-112323222
GAintergenicDe novo--Yuen2017 G
PITX2     AU4079301chr4:
113001128-113001128
CAintergenicDe novo--Yuen2017 G
PITX2     AU4246304chr4:
111690749-111690749
CTintergenicDe novo--Yuen2017 G
PITX2     2-1327-004chr4:
112235726-112235726
GTintergenicDe novo--Yuen2017 G
PITX2     7-0059-003chr4:
112253901-112253901
CTintergenicDe novo--Yuen2017 G
PITX2     7-0100-003chr4:
112049530-112049530
CAintergenicDe novo--Yuen2017 G
PITX2     AU1848302chr4:
112753459-112753459
CAintergenicDe novo--Yuen2017 G
PITX2     13874.p1chr4:
112416878-112416878
GCintergenicDe novo--Turner2016 G
PITX2     12175.p1chr4:
112846777-112846777
AGintergenicDe novo--Turner2016 G
PITX2     1-0285-004chr4:
111557794-111557794
GAintronicDe novo--Yuen2017 G
PITX2     14642.p1chr4:
111670426-111670426
GTintergenicDe novo--Turner2016 G
PITX2     AU4429301chr4:
112335221-112335221
GAintergenicDe novo--Yuen2017 G
PITX2     13951.p1chr4:
111770830-111770830
CTintergenicDe novo--Turner2016 G
PITX2     2-1360-003chr4:
112600181-112600181
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
PITX2     13874.p1chr4:
112963885-112963885
GAintergenicDe novo--Turner2016 G
PITX2     AU2433302chr4:
112101207-112101207
GAintergenicDe novo--Yuen2017 G
PITX2     AU3903302chr4:
111917125-111917133
TCTTACCTTTCTTintergenicDe novo--Yuen2017 G
PITX2     1-0388-003chr4:
112403633-112403633
GAintergenicDe novo--Yuen2017 G
PITX2     1-0004-003chr4:
112284887-112284887
TCintergenicDe novo--Yuen2017 G
PITX2     1-0490-003chr4:
112334485-112334485
AGintergenicDe novo--Yuen2017 G
PITX2     AU3637301chr4:
112194923-112194923
GAintergenicDe novo--Yuen2017 G
PITX2     A22chr4:
112641513-112641513
CTintergenicDe novo--Wu2018 G
PITX2     1-0534-004chr4:
112860329-112860329
TGintergenicDe novo--Yuen2017 G
PITX2     5-0110-003chr4:
112265135-112265135
CGintergenicDe novo--Yuen2017 G
PITX2     5-0110-003chr4:
112566018-112566018
TCintergenicDe novo--Yuen2017 G
PITX2     2-1632-003chr4:
111751156-111751156
TCintergenicDe novo--Yuen2017 G
PITX2     11078.p1chr4:
112998949-112998949
CAintergenicMosaic--Dou2017 E
PITX2     1-0665-003chr4:
112066982-112066982
TCintergenicDe novo--Yuen2017 G
PITX2     1-0585-003chr4:
112064855-112064855
GAintergenicDe novo--Yuen2017 G
PITX2     2-1436-003chr4:
111871775-111871775
GAintergenicDe novo--Yuen2017 G
PITX2     AU015903chr4:
112210206-112210206
TCintergenicDe novo--Yuen2017 G
PITX2     AU3874303chr4:
112316487-112316487
ACintergenicDe novo--Yuen2017 G
PITX2     AU4284301chr4:
111673656-111673656
GTintergenicDe novo--Yuen2017 G
PITX2     AU3779301chr4:
112417420-112417423
TAAATAintergenicDe novo--Yuen2017 G
PITX2     2-1454-003chr4:
112108354-112108354
AGintergenicDe novo--Yuen2017 G
PITX2     2-1093-003chr4:
111655354-111655354
CTintergenicDe novo--Yuen2017 G
PITX2     5-0129-003chr4:
111719316-111719316
GAintergenicDe novo--Yuen2017 G
PITX2     1-0171-005chr4:
112746456-112746456
CTintergenicDe novo--Yuen2017 G
PITX2     AU2951302chr4:
111722674-111722674
CTintergenicDe novo--Yuen2017 G
PITX2     2-1094-004chr4:
112750793-112750793
AATTCTTTTTTTTTTTGAATintergenicDe novo--Yuen2017 G
PITX2     5-0077-003chr4:
112343404-112343404
GAintergenicDe novo--Yuen2017 G
PITX2     AU2951303chr4:
111722674-111722674
CTintergenicDe novo--Yuen2017 G
PITX2     AU4250301chr4:
111625839-111625839
TCintergenicDe novo--Yuen2017 G
PITX2     2-1297-004chr4:
112246262-112246262
CTintergenicDe novo--Yuen2017 G
PITX2     2-1252-003chr4:
112251711-112251711
TGintergenicDe novo--Yuen2017 G
PITX2     AU4485302chr4:
111629799-111629799
TCintergenicDe novo--Yuen2017 G
PITX2     AU3368302chr4:
112618059-112618059
TCintergenicDe novo--Yuen2017 G
PITX2     AU4343302chr4:
111632294-111632294
GCintergenicDe novo--Yuen2017 G
PITX2     5-0077-004chr4:
112321361-112321361
GGCintergenicDe novo--Yuen2017 G
PITX2     2-1231-003chr4:
113044042-113044042
AGintergenicDe novo--Yuen2017 G
PITX2     7-0250-003chr4:
113017307-113017307
TGintergenicDe novo--Yuen2017 G
PITX2     2-0704-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
PITX2     74-0115chr4:
113047914-113047914
GAintergenicDe novo--Michaelson2012 G
PITX2     2-1291-003chr4:
111695099-111695099
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
PITX2     2-1093-009chr4:
112277532-112277532
AAAATTintergenicDe novo--Yuen2017 G
PITX2     AU3911301chr4:
111896351-111896351
CGintergenicDe novo--Yuen2017 G
PITX2     7-0080-003chr4:
112055078-112055078
TGintergenicDe novo--Yuen2017 G
PITX2     74-0352chr4:
112456988-112456988
TCintergenicDe novo--Michaelson2012 G
PITX2     1-0296-004chr4:
112277532-112277532
AAAATTintergenicDe novo--Yuen2017 G
PITX2     AU3716301chr4:
112690844-112690852
ATTCTTCTTATTCTTintergenicDe novo--Yuen2017 G
PITX2     1-0673-003chr4:
112795497-112795497
GAintergenicDe novo--Yuen2017 G
PITX2     AU2437302chr4:
112168794-112168794
CGintergenicDe novo--Yuen2017 G
PITX2     7-0183-003chr4:
111750569-111750569
GGGTTAGACCTAAintergenicDe novo--Yuen2017 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
Curation notesView
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