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Results for "PCDH19"

Variant Events: 11

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
PCDH19     AU3716301chrX:
99713599-99713599
TCintergenicDe novo--Yuen2017 G
PCDH19     7-0068-003chrX:
99756064-99756071
TCCCCCCCTCCCCCCCCCintergenicDe novo--Yuen2017 G
PCDH19     2-1264-003chrX:
99808423-99808430
TAAAAAAATAAAAAAintergenicDe novo--Yuen2017 G
PCDH19     445-09-112127chrX:
99605684-99605688
CAAAACexonicDe novoframeshift deletionNM_001105243
NM_020766
NM_001184880
c.2490_2493del
c.2490_2493del
c.2631_2634del
p.S830fs
p.S830fs
p.S877fs
--Satterstrom2020 E
PCDH19     7-0023-003chrX:
99661630-99661630
CGexonicDe novononsynonymous SNVNM_001105243
NM_001184880
NM_020766
c.G1966C
c.G1966C
c.G1966C
p.A656P
p.A656P
p.A656P
17.99-Yuen2017 G
PCDH19     AU2777302chrX:
99718333-99718333
GAintergenicDe novo--Yuen2017 G
PCDH19     Mahjani2021:21chrX:
99663177-99663177
TCexonicnonsynonymous SNVNM_001105243
NM_001184880
NM_020766
c.A419G
c.A419G
c.A419G
p.E140G
p.E140G
p.E140G
19.86-Mahjani2021 E
PCDH19     AU012804chrX:
99687443-99687443
AGintergenicDe novo--Yuen2017 G
PCDH19     P103chrX:
99658588-99658588
GAexonicPaternalnonsynonymous SNVNM_001184880c.C2222Tp.S741L5.993-Long2019 ET
PCDH19     MR_1285chrX:
99661462-99661463
TCTexonicDe novoframeshift deletionNM_001105243
NM_001184880
NM_020766
c.2133delG
c.2133delG
c.2133delG
p.R711fs
p.R711fs
p.R711fs
--Satterstrom2020 E
PCDH19     Yin2020:051chrX:
99663475-99663475
TCexonicnonsynonymous SNVNM_001105243
NM_001184880
NM_020766
c.A121G
c.A121G
c.A121G
p.N41D
p.N41D
p.N41D
17.85-Yin2020 T
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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