or
or
Exact

Results for "PLD5"

Variant Events: 63

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
PLD5     7-0167-003chr1:
243213386-243213386
CAintergenicDe novo--Yuen2017 G
PLD5     AU075207chr1:
243035013-243035013
AGintergenicDe novo--Yuen2017 G
PLD5     1-0079-003chr1:
242720759-242720760
GAGintergenicDe novo--Yuen2017 G
PLD5     2-0158-003chr1:
243201766-243201766
ACintergenicDe novo--Yuen2017 G
PLD5     2-1107-003chr1:
243057355-243057355
GAintergenicDe novo--Yuen2017 G
PLD5     1-0041-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
PLD5     AU012804chr1:
242344825-242344825
TCintronicDe novo--Yuen2017 G
PLD5     AU2123302chr1:
242483838-242483838
GTintronicDe novo--Yuen2017 G
PLD5     1-0385-003chr1:
242903304-242903304
GCintergenicDe novo--Yuen2017 G
PLD5     1-0458-003chr1:
243027448-243027448
GAintergenicDe novo--Yuen2017 G
PLD5     A16chr1:
242443000-242443000
TCintronicDe novo--Wu2018 G
PLD5     2-1089-003chr1:
242623464-242623464
ACintronicDe novo--Yuen2017 G
PLD5     2-1268-003chr1:
242909096-242909096
ACintergenicDe novo--Yuen2017 G
PLD5     AU4149301chr1:
243048293-243048293
GAintergenicDe novo--Yuen2017 G
PLD5     1-0244-003chr1:
242312010-242312010
ATintronicDe novo--Yuen2016 G
PLD5     AU2089302chr1:
243077307-243077307
GAintergenicDe novo--Yuen2017 G
PLD5     13069.p1chr1:
242637339-242637339
GAintronicDe novo--Turner2016 G
Werling2018 G
PLD5     2-1689-003chr1:
242271662-242271662
CAintronicDe novo--Yuen2017 G
PLD5     12055.p1chr1:
242383342-242383342
TCexonicMosaic, De novononsynonymous SNVNM_001195812
NM_001195811
NM_152666
c.A59G
c.A497G
c.A683G
p.K20R
p.K166R
p.K228R
11.14-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
PLD5     AU4093304chr1:
242571430-242571430
TCintronicDe novo--Yuen2017 G
PLD5     2-1254-003chr1:
242644247-242644247
GAintronicDe novo--Yuen2016 G
PLD5     AU2129303chr1:
243058068-243058068
TCintergenicDe novo--Yuen2017 G
PLD5     SSC07586chr1:
242383342-242383342
TCexonicMosaicnonsynonymous SNVNM_001195812
NM_001195811
NM_152666
c.A59G
c.A497G
c.A683G
p.K20R
p.K166R
p.K228R
11.14-Lim2017 E
PLD5     AU2129303chr1:
243169221-243169221
TCintergenicDe novo--Yuen2017 G
PLD5     2-0307-004chr1:
242571284-242571284
GAintronicDe novo--Yuen2017 G
PLD5     2-1375-003chr1:
243028486-243028486
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
PLD5     AU4060306chr1:
243034911-243034911
TCintergenicDe novo--Yuen2017 G
PLD5     1-0446-003chr1:
242893668-242893668
CTintergenicDe novo--Yuen2017 G
PLD5     1-0985-003chr1:
242937417-242937417
GAintergenicDe novo--Yuen2017 G
PLD5     7-0250-003chr1:
242853368-242853373
CTGTGTCTGTintergenicDe novo--Yuen2017 G
PLD5     AU056804chr1:
242386431-242386431
ATintronicDe novo--Yuen2017 G
PLD5     AU1940304chr1:
242335887-242335887
CTintronicDe novo--Yuen2017 G
PLD5     1-0531-003chr1:
242494202-242494202
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PLD5     5-0146-003chr1:
242925197-242925197
TCintergenicDe novo--Yuen2017 G
PLD5     1-0582-003chr1:
243049735-243049735
GCintergenicDe novo--Yuen2017 G
PLD5     AU3874302chr1:
242507566-242507566
CTintronicDe novo--Yuen2017 G
PLD5     2-1422-003chr1:
242730369-242730369
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
PLD5     2-0244-003chr1:
242664165-242664165
ATintronicDe novo--Yuen2017 G
PLD5     2-1357-003chr1:
242346021-242346021
CAintronicDe novo--Yuen2017 G
PLD5     3-0216-000chr1:
243192158-243192161
CAGACAintergenicDe novo--Yuen2017 G
PLD5     1-0513-003chr1:
242455655-242455655
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PLD5     1-0629-003chr1:
242766384-242766384
AGintergenicDe novo--Yuen2017 G
PLD5     AU4234302chr1:
242653217-242653218
GAGintronicDe novo--Yuen2017 G
PLD5     AU3716301chr1:
242987505-242987512
GAAAAAAAGAAAAAAintergenicDe novo--Yuen2017 G
PLD5     1-0835-003chr1:
243147499-243147499
ATintergenicDe novo--Yuen2017 G
PLD5     1-0835-003chr1:
242491852-242491852
ACintronicDe novo--Yuen2017 G
PLD5     1-0708-003chr1:
242593356-242593356
TCintronicDe novo--Yuen2017 G
PLD5     AU003406chr1:
242433692-242433692
TCintronicDe novo--Yuen2017 G
PLD5     1-0300-004chr1:
242373442-242373442
GAintronicDe novo--Yuen2017 G
PLD5     AU051504chr1:
242860051-242860051
CTintergenicDe novo--Yuen2017 G
PLD5     2-0219-004chr1:
242683594-242683594
TCintronicDe novo--Yuen2017 G
PLD5     1-0493-003chr1:
243122723-243122723
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
PLD5     7-0143-003chr1:
242698120-242698120
CTintergenicDe novo--Yuen2017 G
PLD5     2-1627-003chr1:
242581124-242581124
GCintronicDe novo--Yuen2017 G
PLD5     AU4013302chr1:
242870234-242870234
CTintergenicDe novo--Yuen2017 G
PLD5     1-0668-003chr1:
242762904-242762904
CTintergenicDe novo--Yuen2017 G
PLD5     1-0914-003chr1:
242983587-242983587
CTintergenicDe novo--Yuen2017 G
PLD5     AU0540301chr1:
243213337-243213337
GAintergenicDe novo--Yuen2017 G
PLD5     2-1272-003chr1:
242904809-242904809
CTintergenicDe novo--Yuen2016 G
PLD5     2-0242-005chr1:
242322426-242322426
CAintronicDe novo--Yuen2017 G
PLD5     2-0310-004chr1:
243038608-243038608
GAintergenicDe novo--Yuen2017 G
PLD5     2-1429-004chr1:
242808990-242808990
TCintergenicDe novo--Yuen2017 G
PLD5     AU3905301chr1:
243161883-243161883
TCintergenicDe novo--Yuen2017 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 notesView
More