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Results for "VPS13D"

Variant Events: 21

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
VPS13D     A25chr1:
12450898-12450898
CTintronicDe novo--Wu2018 G
VPS13D     AU3779301chr1:
12402345-12402345
AGintronicDe novo--Yuen2017 G
VPS13D     12108.p1chr1:
12428626-12428626
CTexonicMosaicstopgainNM_018156
NM_015378
c.C10477T
c.C10552T
p.R3493X
p.R3518X
53.08.31E-6Dou2017 E
Krupp2017 E
VPS13D     1-0405-003chr1:
12474491-12474491
GAintronicDe novo--Yuen2017 G
VPS13D     iHART2440chr1:
12428551-12428551
CTexonicPaternalstopgainNM_018156
NM_015378
c.C10402T
c.C10477T
p.R3468X
p.R3493X
53.0-Ruzzo2019 G
VPS13D     G01-GEA-327_HIchr1:
12408902-12408902
GAexonicDe novononsynonymous SNVNM_018156
NM_015378
c.G9017A
c.G9092A
p.R3006Q
p.R3031Q
36.08.239E-6Satterstrom2020 E
VPS13D     1-0142-005chr1:
12544002-12544002
GAintronicDe novo--Yuen2017 G
VPS13D     AU4243302chr1:
12441214-12441214
TCintronicDe novo--Yuen2017 G
VPS13D     AU2437302chr1:
12291162-12291162
GAintronicDe novo--Yuen2017 G
VPS13D     11456.p1chr1:
12320104-12320104
ATintronicDe novo--Turner2016 G
VPS13D     3-0439-000chr1:
12527634-12527634
TCintronicDe novo--Yuen2016 G
VPS13D     AU024607chr1:
12311554-12311554
AGintronicDe novo--Yuen2017 G
VPS13D     iHART1571chr1:
12463986-12463988
TAATexonicMaternalframeshift deletionNM_018156
NM_015378
c.11916_11917del
c.11991_11992del
p.L3972fs
p.L3997fs
--Ruzzo2019 G
VPS13D     1-0346-004chr1:
12436217-12436217
TGintronicDe novo--Yuen2017 G
VPS13D     DEASD_0068_001chr1:
12336770-12336770
CTexonicDe novononsynonymous SNVNM_015378
NM_018156
c.C3125T
c.C3125T
p.S1042F
p.S1042F
18.67-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
VPS13D     1-0138-004chr1:
12432976-12432976
TCintronicDe novo--Yuen2017 G
VPS13D     1-0756-004chr1:
12319459-12319459
GAintronicDe novo--Yuen2017 G
VPS13D     AU2756306chr1:
12522193-12522194
GCGintronicDe novo--Yuen2017 G
VPS13D     13930.p1chr1:
12428630-12428630
TCexonicDe novononsynonymous SNVNM_018156
NM_015378
c.T10481C
c.T10556C
p.I3494T
p.I3519T
24.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
VPS13D     1-0547-003chr1:
12427510-12427510
AGintronicDe novo--Yuen2017 G
VPS13D     2-1505-003chr1:
12385347-12385347
CTintronicDe novo--Yuen2017 G
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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