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Results for "GPC5"

Variant Events: 85

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
GPC5     AU3263302chr13:
93331866-93331866
TAintronicDe novo--Yuen2017 G
GPC5     2-1261-003chr13:
92261273-92261273
AAAAAAAAAAAAGintronicDe novo--Yuen2017 G
GPC5     1-0459-004chr13:
92844830-92844830
TAintronicDe novo--Yuen2017 G
GPC5     2-1308-003chr13:
92082094-92082094
AGintronicDe novo--Yuen2016 G
Yuen2017 G
GPC5     7-0140-003chr13:
92159232-92159232
AGintronicDe novo--Yuen2017 G
GPC5     AU066104chr13:
92703351-92703352
ACAintronicDe novo--Yuen2017 G
GPC5     2-1382-003chr13:
93275849-93275849
ACintronicDe novo--Yuen2016 G
Yuen2017 G
GPC5     13980.p1chr13:
92101155-92101155
CAexonicDe novosynonymous SNVNM_004466c.C304Ap.R102R--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
GPC5     11042.p1chr13:
92345513-92345513
TCexonicMosaic, De novononsynonymous SNVNM_004466c.T398Cp.M133T18.43-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
GPC5     AU055004chr13:
92613515-92613515
TAintronicDe novo--Yuen2017 G
GPC5     1-0755-003chr13:
92804225-92804225
TCintronicDe novo--Yuen2017 G
GPC5     1-0755-003chr13:
92789692-92789692
AGintronicDe novo--Yuen2017 G
GPC5     AU4006302chr13:
92912158-92912158
GAintronicDe novo--Yuen2017 G
GPC5     AU4462302chr13:
93636306-93636306
CTintergenicDe novo--Yuen2017 G
GPC5     12449.p1chr13:
92342962-92342962
GAintronicDe novo--Turner2016 G
GPC5     1-0906-003chr13:
92645574-92645574
CTintronicDe novo--Yuen2017 G
GPC5     2-0144-004chr13:
92097404-92097404
AATintronicDe novo--Yuen2017 G
GPC5     1-0567-004chr13:
92881766-92881766
CTintronicDe novo--Yuen2017 G
GPC5     1-0567-004chr13:
92798902-92798902
TCintronicDe novo--Yuen2017 G
GPC5     2-1305-003chr13:
92869624-92869624
CAintronicDe novo--Yuen2016 G
GPC5     2-1093-009chr13:
92117983-92117983
TAintronicDe novo--Yuen2017 G
GPC5     AU2000304chr13:
92845407-92845407
GAintronicDe novo--Yuen2017 G
GPC5     2-1093-009chr13:
92117209-92117209
CTintronicDe novo--Yuen2017 G
GPC5     AU3702307chr13:
92810260-92810260
ACintronicDe novo--Yuen2017 G
GPC5     AU3764302chr13:
93479107-93479107
GTintronicDe novo--Yuen2017 G
GPC5     AU4283301chr13:
92304371-92304371
CTintronicDe novo--Yuen2017 G
GPC5     AU036203chr13:
92409437-92409437
CGintronicDe novo--Yuen2017 G
GPC5     1-0377-003chr13:
92497716-92497716
AGintronicDe novo--Yuen2017 G
GPC5     2-0238-003chr13:
93667095-93667095
AGintergenicDe novo--Yuen2017 G
GPC5     7-0151-003chr13:
92776137-92776137
TGintronicDe novo--Yuen2017 G
GPC5     2-1174-005Bchr13:
92368469-92368469
CGintronicDe novo--Yuen2017 G
GPC5     AU038703chr13:
93468759-93468759
AGintronicDe novo--Yuen2017 G
GPC5     2-1407-003chr13:
92579163-92579163
TAintronicDe novo--Yuen2016 G
Yuen2017 G
GPC5     2-0135-003chr13:
92347288-92347288
TCintronicDe novo--Yuen2017 G
GPC5     AU057405chr13:
93006838-93006838
CGintronicDe novo--Yuen2017 G
GPC5     AU3912301chr13:
92926446-92926446
TCintronicDe novo--Yuen2017 G
GPC5     1-0572-003chr13:
92915505-92915505
ATintronicDe novo--Yuen2017 G
GPC5     AU3846303chr13:
92114875-92114877
TAATAintronicDe novo--Yuen2017 G
GPC5     AU3858303chr13:
93164764-93164764
CTintronicDe novo--Yuen2017 G
GPC5     2-1645-003chr13:
93079021-93079021
GAintronicDe novo--Yuen2017 G
GPC5     AU4465303chr13:
93105121-93105121
ATintronicDe novo--Yuen2017 G
GPC5     1-0222-003chr13:
93692036-93692036
CAintergenicDe novo--Yuen2017 G
GPC5     2-0144-003chr13:
92097404-92097404
AATintronicDe novo--Yuen2017 G
GPC5     AU2019302chr13:
92323995-92323995
AGintronicDe novo--Yuen2017 G
GPC5     3-0209-000chr13:
92334410-92334410
CTintronicDe novo--Yuen2017 G
GPC5     1-0181-004chr13:
92882727-92882727
AGintronicDe novo--Yuen2017 G
GPC5     1-0439-003chr13:
92507466-92507466
CTintronicDe novo--Yuen2016 G
Yuen2017 G
GPC5     AU4444304chr13:
93262081-93262081
CTintronicDe novo--Yuen2017 G
GPC5     AU2975302chr13:
92969367-92969367
GTintronicDe novo--Yuen2017 G
GPC5     1-0439-003chr13:
92316965-92316965
TCintronicDe novo--Yuen2016 G
Yuen2017 G
GPC5     2-1518-003chr13:
92502517-92502517
CTintronicDe novo--Yuen2017 G
GPC5     AU4029302chr13:
93182491-93182491
ACintronicDe novo--Yuen2017 G
GPC5     1-0923-003chr13:
93014305-93014311
ATAACTAATAintronicDe novo--Yuen2017 G
GPC5     AU070007chr13:
92416920-92416920
CGintronicDe novo--Yuen2017 G
GPC5     AU3692302chr13:
93196007-93196013
ATTTTTTATTTTTTTintronicDe novo--Yuen2017 G
GPC5     2-1261-004chr13:
92261273-92261273
AAAAGintronicDe novo--Yuen2017 G
GPC5     1-0375-003chr13:
92224910-92224910
CTintronicDe novo--Yuen2016 G
Yuen2017 G
GPC5     A12chr13:
92932490-92932493
AGTTAintronicDe novo--Wu2018 G
GPC5     AU3801301chr13:
92240566-92240566
AGintronicDe novo--Yuen2017 G
GPC5     1-0514-003chr13:
92373318-92373318
CTintronicDe novo--Yuen2017 G
GPC5     2-0028-003chr13:
93090738-93090738
GAintronicDe novo--Yuen2016 G
Yuen2017 G
GPC5     AU1909304chr13:
92261750-92261750
GAintronicDe novo--Yuen2017 G
GPC5     5-0046-003chr13:
92741686-92741693
CAAAAAAACAAAAAAAAAintronicDe novo--Yuen2017 G
GPC5     AU4410302chr13:
93546867-93546867
CTintergenicDe novo--Yuen2017 G
GPC5     AU2000305chr13:
93381657-93381657
AGintronicDe novo--Yuen2017 G
GPC5     AU1795301chr13:
93068476-93068476
TCintronicDe novo--Yuen2017 G
GPC5     A32chr13:
92470187-92470187
AGintronicDe novo--Wu2018 G
GPC5     2-1170-003chr13:
92403917-92403917
ACintronicDe novo--Yuen2017 G
GPC5     1-0004-003chr13:
92261273-92261273
AAAAAAAAAGintronicDe novo--Yuen2017 G
GPC5     AU3861303chr13:
93381794-93381794
TCintronicDe novo--Yuen2017 G
GPC5     2-1567-003chr13:
92891677-92891677
ATintronicDe novo--Yuen2017 G
GPC5     7-0077-003chr13:
92592023-92592023
CTintronicDe novo--Yuen2017 G
GPC5     AU3889305chr13:
92394701-92394701
AGintronicDe novo--Yuen2017 G
GPC5     A29chr13:
93516049-93516049
CTintronicDe novo--Wu2018 G
GPC5     AU076705chr13:
93451181-93451181
ACintronicDe novo--Yuen2017 G
GPC5     1-0556-003chr13:
93404765-93404765
CAintronicDe novo--Yuen2017 G
GPC5     1-0381-003chr13:
93673504-93673504
GAintergenicDe novo--Yuen2017 G
GPC5     AU3057302chr13:
92058593-92058593
TAintronicDe novo--Yuen2017 G
GPC5     1-0466-003chr13:
93040537-93040537
ATintronicDe novo--Yuen2017 G
GPC5     1-0744-003chr13:
92736438-92736438
GAintronicDe novo--Yuen2017 G
GPC5     AU4356302chr13:
92517843-92517843
CTintronicDe novo--Yuen2017 G
GPC5     1-0065-005chr13:
93035287-93035287
CCATTATATGintronicDe novo--Yuen2017 G
GPC5     2-1735-003chr13:
93155110-93155110
TCintronicDe novo--Yuen2017 G
GPC5     AU4054301chr13:
92137768-92137768
GAintronicDe novo--Yuen2017 G
GPC5     10C108981chr13:
92560202-92560202
GAexonicDe novononsynonymous SNVNM_004466c.G1292Ap.R431H8.4438.872E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
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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