Variant Results

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or

Results for "PCDH19"

Variant Events: 13

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

AU2777302

chrX:
99718333-99718333

G

A

intergenic

De novo

-

-

Yuen2017 G

PCDH19

AU012804

chrX:
99687443-99687443

A

G

intergenic

De novo

-

-

Yuen2017 G

PCDH19

P103

chrX:
99658588-99658588

G

A

exonic

Paternal

nonsynonymous SNV

NM_001184880

c.C2222T

p.S741L

5.993

-

Long2019 ET

PCDH19

AU3716301

chrX:
99713599-99713599

T

C

intergenic

De novo

-

-

Yuen2017 G

PCDH19

7-0068-003

chrX:
99756064-99756071

TCCCCCCC

TCCCCCCCCC

intergenic

De novo

-

-

Yuen2017 G

PCDH19

2-1264-003

chrX:
99808423-99808430

TAAAAAAA

TAAAAAA

intergenic

De novo

-

-

Yuen2017 G

PCDH19

445-09-112127

chrX:
99605684-99605688

CAAAA

C

exonic

De novo

frameshift deletion

NM_001105243
NM_020766
NM_001184880

c.2490_2493del
c.2490_2493del
c.2631_2634del

p.S830fs
p.S830fs
p.S877fs

-

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PCDH19

7-0023-003

chrX:
99661630-99661630

C

G

exonic

De novo

nonsynonymous SNV

NM_001105243
NM_001184880
NM_020766

c.G1966C
c.G1966C
c.G1966C

p.A656P
p.A656P
p.A656P

17.99

-

Yuen2017 G
Zhou2022 GE

PCDH19

SP0012178

chrX:
99663047-99663047

G

C

exonic

nonsynonymous SNV

NM_001105243
NM_001184880
NM_020766

c.C549G
c.C549G
c.C549G

p.D183E
p.D183E
p.D183E

14.75

-

Zhou2022 GE

PCDH19

Mahjani2021:21

chrX:
99663177-99663177

T

C

exonic

nonsynonymous SNV

NM_001105243
NM_001184880
NM_020766

c.A419G
c.A419G
c.A419G

p.E140G
p.E140G
p.E140G

19.86

-

Mahjani2021 E

PCDH19

5-5035-003

chrX:
99596941-99596941

G

A

exonic

synonymous SNV

NM_001105243
NM_020766
NM_001184880

c.C2667T
c.C2664T
c.C2808T

p.N889N
p.N888N
p.N936N

-

-

Zhou2022 GE

PCDH19

MR_1285

chrX:
99661462-99661463

TC

T

exonic

De novo

frameshift deletion

NM_001105243
NM_001184880
NM_020766

c.2133delG
c.2133delG
c.2133delG

p.R711fs
p.R711fs
p.R711fs

-

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PCDH19

Yin2020:051

chrX:
99663475-99663475

T

C

exonic

nonsynonymous SNV

NM_001105243
NM_001184880
NM_020766

c.A121G
c.A121G
c.A121G

p.N41D
p.N41D
p.N41D

17.85

-

Yin2020 T

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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