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Results for "PTH2R"

Variant Events: 66

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
PTH2R     1-0289-004chr2:
209331113-209331113
AGintronicDe novo--Yuen2017 G
PTH2R     1-0138-004chr2:
209426667-209426667
AGintergenicDe novo--Yuen2017 G
PTH2R     1-0482-003chr2:
210246102-210246102
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
PTH2R     AU4197301chr2:
209610064-209610064
AGintergenicDe novo--Yuen2017 G
PTH2R     2-0198-005chr2:
209587444-209587444
CAintergenicDe novo--Yuen2017 G
PTH2R     1-0263-003chr2:
209558843-209558843
GAintergenicDe novo--Yuen2016 G
PTH2R     AU031003chr2:
209840161-209840161
TCintergenicDe novo--Yuen2017 G
PTH2R     AU054304chr2:
209561796-209561796
TAintergenicDe novo--Yuen2017 G
PTH2R     AU4122301chr2:
209739831-209739831
TCintergenicDe novo--Yuen2017 G
PTH2R     AU3891304chr2:
209340310-209340310
GAintronicDe novo--Yuen2017 G
PTH2R     AU2863302chr2:
209329937-209329937
GAintronicDe novo--Yuen2017 G
PTH2R     7-0197-003chr2:
209721178-209721178
CGintergenicDe novo--Yuen2017 G
PTH2R     AU4228301chr2:
209517548-209517548
GAintergenicDe novo--Yuen2017 G
PTH2R     AU031204chr2:
209347506-209347506
ATintronicDe novo--Yuen2017 G
PTH2R     2-0022-005chr2:
209668896-209668896
ACintergenicDe novo--Yuen2017 G
PTH2R     2-0198-004chr2:
209587444-209587444
CAintergenicDe novo--Yuen2017 G
PTH2R     2-1299-003chr2:
209674120-209674120
AGintergenicDe novo--Yuen2017 G
PTH2R     AU2793303chr2:
210002528-210002528
AGintergenicDe novo--Yuen2017 G
PTH2R     AU4263304chr2:
210160804-210160804
CAintergenicDe novo--Yuen2017 G
PTH2R     1-0627-006chr2:
209970109-209970109
ATintergenicDe novo--Yuen2017 G
PTH2R     1-0121-003chr2:
210071000-210071000
GTintergenicDe novo--Yuen2017 G
PTH2R     AU3912303chr2:
210118830-210118830
TGintergenicDe novo--Yuen2017 G
PTH2R     2-0214-004chr2:
209642299-209642299
CTintergenicDe novo--Yuen2017 G
PTH2R     AU3912303chr2:
210118897-210118897
TCintergenicDe novo--Yuen2017 G
PTH2R     AU4153301chr2:
209645683-209645683
TCintergenicDe novo--Yuen2017 G
PTH2R     2-1689-003chr2:
210190016-210190016
CTintergenicDe novo--Yuen2017 G
PTH2R     2-1212-003chr2:
209420636-209420636
GAintergenicDe novo--Yuen2017 G
PTH2R     2-1689-003chr2:
210196580-210196580
TAintergenicDe novo--Yuen2017 G
PTH2R     AU031203chr2:
209500416-209500416
ACintergenicDe novo--Yuen2017 G
PTH2R     AU3190305chr2:
210084970-210084974
ACTGCACintergenicDe novo--Yuen2017 G
PTH2R     2-1629-003chr2:
209999175-209999175
CTintergenicDe novo--Yuen2017 G
PTH2R     1-0099-003chr2:
209973625-209973625
CGintergenicDe novo--Yuen2017 G
PTH2R     AU1725302chr2:
209520015-209520015
CTintergenicDe novo--Yuen2017 G
PTH2R     1-0466-003chr2:
210047406-210047406
GAintergenicDe novo--Yuen2017 G
PTH2R     1-0259-005chr2:
210211456-210211456
AGintergenicDe novo--Yuen2017 G
PTH2R     2-1359-004chr2:
209300033-209300033
GTintronicDe novo--Yuen2017 G
PTH2R     AU3716302chr2:
209856711-209856711
TCintergenicDe novo--Yuen2017 G
PTH2R     AU4308302chr2:
209978756-209978756
TCintergenicDe novo--Yuen2017 G
PTH2R     2-1196-003chr2:
210093482-210093482
CTintergenicDe novo--Yuen2017 G
PTH2R     2-1196-003chr2:
209998192-209998192
CAintergenicDe novo--Yuen2017 G
PTH2R     AU3154302chr2:
209697033-209697033
GAintergenicDe novo--Yuen2017 G
PTH2R     AU3645301chr2:
209499883-209499883
TCintergenicDe novo--Yuen2017 G
PTH2R     1-0141-003chr2:
209755111-209755111
CTintergenicDe novo--Yuen2017 G
PTH2R     AU4056301chr2:
209952546-209952546
TCintergenicDe novo--Yuen2017 G
PTH2R     2-1508-003chr2:
210178516-210178516
CGintergenicDe novo--Yuen2017 G
PTH2R     1-0651-003chr2:
209760178-209760178
GAintergenicDe novo--Yuen2017 G
PTH2R     1-0651-003chr2:
209760176-209760176
GCintergenicDe novo--Yuen2017 G
PTH2R     2-0144-004chr2:
209534096-209534096
CTintergenicDe novo--Yuen2017 G
PTH2R     AU3777302chr2:
210082627-210082627
TAintergenicDe novo--Yuen2017 G
PTH2R     iHART1057chr2:
209309610-209309610
GAexonicMaternalstopgainNM_001309516
NM_005048
c.G518A
c.G851A
p.W173X
p.W284X
39.04.0E-4Ruzzo2019 G
PTH2R     11456.p1chr2:
209910827-209910827
AGintergenicDe novo--Turner2016 G
PTH2R     iHART2576chr2:
209324688-209324688
TCsplicingMaternalsplicing18.682.475E-5Ruzzo2019 G
PTH2R     2-1129-003chr2:
210062698-210062698
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
PTH2R     2-1722-003chr2:
210242842-210242842
ACintergenicDe novo--Yuen2017 G
PTH2R     AU027506chr2:
209235677-209235677
TGintronicDe novo--Yuen2017 G
PTH2R     iHART2577chr2:
209324688-209324688
TCsplicingMaternalsplicing18.682.475E-5Ruzzo2019 G
PTH2R     5-0148-003chr2:
209676765-209676765
AGintergenicDe novo--Yuen2017 G
PTH2R     2-1461-003chr2:
209572558-209572558
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
PTH2R     11252.p1chr2:
210102246-210102246
CAintergenicDe novo--Turner2016 G
PTH2R     1-0661-003chr2:
209521609-209521609
GCintergenicDe novo--Yuen2017 G
PTH2R     74-0352chr2:
209892174-209892174
TCintergenicDe novo--Michaelson2012 G
PTH2R     1-0708-003chr2:
209783468-209783468
CTintergenicDe novo--Yuen2017 G
PTH2R     2-1213-003chr2:
209969838-209969838
CTintergenicDe novo--Yuen2017 G
PTH2R     AU2248302chr2:
209397117-209397118
CTCintergenicDe novo--Yuen2017 G
PTH2R     A16chr2:
210173056-210173056
GCintergenicDe novo--Wu2018 G
PTH2R     7-0143-003chr2:
209381077-209381077
GAintergenicDe 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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