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Results for "PDXDC1"

Variant Events: 17

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
PDXDC1     AU045010chr16:
15236739-15236739
CTintergenicDe novo--Yuen2017 G
PDXDC1     AU2711303chr16:
15240440-15240440
CTintergenicDe novo--Yuen2017 G
PDXDC1     AU056803chr16:
15164593-15164593
CTintronicDe novo--Yuen2017 G
PDXDC1     AU4056301chr16:
15244492-15244492
CGintergenicDe novo--Yuen2017 G
PDXDC1     AU4237302chr16:
15233631-15233631
CAdownstreamDe novo--Yuen2017 G
PDXDC1     AU4467302chr16:
15244288-15244288
GAintergenicDe novo--Yuen2017 G
PDXDC1     SSC02680chr16:
15112789-15112789
GAexonicDe novosynonymous SNVNM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027
c.G975A
c.G972A
c.G783A
c.G987A
c.G1011A
c.G1056A
c.G1056A
p.G325G
p.G324G
p.G261G
p.G329G
p.G337G
p.G352G
p.G352G
--Fu2022 E
Lim2017 E
PDXDC1     Lim2017:10520chr16:
15103581-15103581
GAexonicDe novononsynonymous SNVNM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027
c.G611A
c.G608A
c.G419A
c.G623A
c.G647A
c.G692A
c.G692A
p.R204Q
p.R203Q
p.R140Q
p.R208Q
p.R216Q
p.R231Q
p.R231Q
10.884.127E-5Lim2017 E
PDXDC1     Lim2017:5417chr16:
15122873-15122873
AGexonicDe novononsynonymous SNVNM_001285450c.A1274Gp.H425R9.6741.15E-5Lim2017 E
PDXDC1     SP0023249chr16:
15127322-15127322
GAintronicDe novo--Fu2022 E
PDXDC1     2-1497-003chr16:
15094030-15094030
GAintronicDe novo--Yuen2017 G
PDXDC1     3-0437-000chr16:
15096025-15096025
TCintronicDe novo--Yuen2016 G
PDXDC1     10520chr16:
15103581-15103581
GAexonicDe novononsynonymous SNVNM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027
c.G611A
c.G608A
c.G419A
c.G623A
c.G647A
c.G692A
c.G692A
p.R204Q
p.R203Q
p.R140Q
p.R208Q
p.R216Q
p.R231Q
p.R231Q
10.884.127E-5Fu2022 E
PDXDC1     11468.p1chr16:
15112789-15112789
GAexonicDe novosynonymous SNVNM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027
c.G975A
c.G972A
c.G783A
c.G987A
c.G1011A
c.G1056A
c.G1056A
p.G325G
p.G324G
p.G261G
p.G329G
p.G337G
p.G352G
p.G352G
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
PDXDC1     Chen2017:43chr16:
15112743-15112743
GAexonicDe novononsynonymous SNVNM_001285444
NM_001285445
NM_001285448
NM_001285450
NM_001285447
NM_001285449
NM_015027
c.G929A
c.G926A
c.G737A
c.G941A
c.G965A
c.G1010A
c.G1010A
p.R310H
p.R309H
p.R246H
p.R314H
p.R322H
p.R337H
p.R337H
27.61.0E-4Chen2017 E
PDXDC1     DEASD_4032_001chr16:
15120661-15120661
TGintronicDe novo--Fu2022 E
PDXDC1     5417chr16:
15122873-15122873
AGexonicDe novononsynonymous SNVNM_001285450c.A1274Gp.H425R9.6741.15E-5Fu2022 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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