Variant Results

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Results for "PCDHGA10"

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

PCDHGA10

2-1169-003

chr5:
140794088-140794088

T

G

exonic

De novo

nonsynonymous SNV

NM_018913
NM_032090

c.T1346G
c.T1346G

p.I449S
p.I449S

12.91

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

PCDHGA10

iHART3298

chr5:
140795044-140795048

CGAAA

C

exonic

Maternal

frameshift deletion

NM_018913
NM_032090

c.2303_2306del
c.2303_2306del

p.R768fs
p.R768fs

-

Ruzzo2019 G

PCDHGA10

AU4235303

chr5:
140795044-140795048

CGAAA

C

exonic

Maternal

frameshift deletion

NM_018913
NM_032090

c.2303_2306del
c.2303_2306del

p.R768fs
p.R768fs

-

Cirnigliaro2023 G

PCDHGA10

AU4235302

chr5:
140795044-140795048

CGAAA

C

exonic

Maternal

frameshift deletion

NM_018913
NM_032090

c.2303_2306del
c.2303_2306del

p.R768fs
p.R768fs

-

Cirnigliaro2023 G

PCDHGA10

AU4235301

chr5:
140795044-140795048

CGAAA

C

exonic

Maternal

frameshift deletion

NM_018913
NM_032090

c.2303_2306del
c.2303_2306del

p.R768fs
p.R768fs

-

Cirnigliaro2023 G

PCDHGA10

mAGRE4970

chr5:
140794065-140794065

C

CT

exonic

Maternal

frameshift insertion

NM_018913
NM_032090

c.1324dupT
c.1324dupT

p.H441fs
p.H441fs

-

Cirnigliaro2023 G

PCDHGA10

mAGRE4908

chr5:
140794065-140794065

C

CT

exonic

Maternal

frameshift insertion

NM_018913
NM_032090

c.1324dupT
c.1324dupT

p.H441fs
p.H441fs

-

Cirnigliaro2023 G

PCDHGA10

11086.p1

chr5:
140793273-140793273

C

T

exonic

synonymous SNV

NM_018913
NM_032090

c.C531T
c.C531T

p.S177S
p.S177S

-

-

Zhou2022 GE

PCDHGA10

80001102321

chr5:
140795019-140795019

C

G

exonic

De novo

nonsynonymous SNV

NM_018913
NM_032090

c.C2277G
c.C2277G

p.H759Q
p.H759Q

15.07

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PCDHGA10

iHART3300

chr5:
140795044-140795048

CGAAA

C

exonic

Maternal

frameshift deletion

NM_018913
NM_032090

c.2303_2306del
c.2303_2306del

p.R768fs
p.R768fs

-

Ruzzo2019 G

PCDHGA10

iHART3301

chr5:
140795044-140795048

CGAAA

C

exonic

Maternal

frameshift deletion

NM_018913
NM_032090

c.2303_2306del
c.2303_2306del

p.R768fs
p.R768fs

-

Ruzzo2019 G

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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