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Results for "VPS13B"

Variant Events: 76

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
VPS13B     63-343chr8:
100029719-100029719
TGintronicDe novo--Michaelson2012 G
VPS13B     1-0755-003chr8:
100281357-100281357
TCintronicDe novo--Yuen2017 G
VPS13B     74-0075chr8:
100264852-100264852
GTintronicDe novo--Michaelson2012 G
VPS13B     11341.p1chr8:
100846937-100846937
CTintronicDe novo--Turner2016 G
VPS13B     AU4152303chr8:
100325762-100325762
GAintronicDe novo--Yuen2017 G
VPS13B     14153.p1chr8:
100636265-100636265
GTintronicDe novo--Turner2016 G
VPS13B     Li2017:20766chr8:
100880652-100880652
CTexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.C11426T
c.C11351T
p.P3809L
p.P3784L
33.0-Li2017 T
VPS13B     1-0464-003chr8:
100594820-100594820
TCintronicDe novo--Yuen2016 G
Yuen2017 G
VPS13B     2-1428-003chr8:
100302975-100302975
TAintronicDe novo--Yuen2016 G
Yuen2017 G
VPS13B     2-0300-003chr8:
100499478-100499478
AGintronicDe novo--Yuen2017 G
VPS13B     2-0057-003chr8:
100038654-100038654
CAintronicDe novo--Yuen2017 G
VPS13B     2-1434-003chr8:
100471263-100471263
GAintronicDe novo--Yuen2017 G
VPS13B     Li2017:19625chr8:
100587894-100587894
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G5033A
c.G4958A
p.R1678Q
p.R1653Q
25.92.48E-5Li2017 T
VPS13B     3-0396-000chr8:
100086201-100086201
AGintronicDe novo--Yuen2016 G
VPS13B     Li2017:16286chr8:
100887863-100887867
AAAATAexonicUnknownframeshift deletionNM_017890
NM_152564
c.12039_12042del
c.11964_11967del
p.K4013fs
p.K3988fs
-8.239E-6Li2017 T
VPS13B     7-0100-004chr8:
100364443-100364446
GTAAGintronicDe novo--Yuen2017 G
VPS13B     AU3371301chr8:
100377149-100377149
CGintronicDe novo--Yuen2017 G
VPS13B     PN400417chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     2-1155-003chr8:
100875359-100875359
TCintronicDe novo--Yuen2016 G
Yuen2017 G
VPS13B     PN400499chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     AU005214chr8:
100538106-100538106
GCintronicDe novo--Yuen2017 G
VPS13B     2-1315-003chr8:
100300667-100300667
CAintronicDe novo--Yuen2017 G
VPS13B     Li2017:23092chr8:
100733201-100733201
CTexonicUnknownstopgainNM_017890
NM_152564
c.C7051T
c.C6976T
p.R2351X
p.R2326X
50.08.241E-6Li2017 T
VPS13B     Cukier2014:17678chr8:
100832259-100832259
AGexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.A8978G
c.A8903G
p.N2993S
p.N2968S
23.70.0032Cukier2014 E
VPS13B     1-0119-004chr8:
100542758-100542759
CTCintronicDe novo--Yuen2017 G
VPS13B     2-1619-003chr8:
100795771-100795771
AGintronicDe novo--Yuen2017 G
VPS13B     PN400341chr8:
100654570-100654570
CTexonicUnknownstopgainNM_017890
NM_152564
c.C5827T
c.C5752T
p.R1943X
p.R1918X
46.0-Leblond2019 E
VPS13B     AU2108302chr8:
100128610-100128610
TGintronicDe novo--Yuen2017 G
VPS13B     2-1620-004chr8:
100269483-100269483
GTintronicDe novo--Yuen2017 G
VPS13B     AU4344301chr8:
100336849-100336849
GAintronicDe novo--Yuen2017 G
VPS13B     2-1460-003chr8:
100388818-100388818
GAintronicDe novo--Yuen2017 G
VPS13B     2-1456-004chr8:
100644716-100644716
GAintronicDe novo--Yuen2017 G
VPS13B     PN400457chr8:
100883013-100883018
GTATTTGexonicUnknownframeshift deletionNM_017890
NM_152564
c.11469_11473del
c.11394_11398del
p.G3823fs
p.G3798fs
--Leblond2019 E
VPS13B     1-0320-004chr8:
100681426-100681426
GAintronicDe novo--Yuen2017 G
VPS13B     Li2017:4chr8:
100871586-100871586
GCexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G10997C
c.G10922C
p.S3666T
p.S3641T
21.1-Li2017 T
VPS13B     1-0325-003chr8:
100437047-100437047
CTintronicDe novo--Yuen2017 G
VPS13B     2-1460-003chr8:
100429990-100429990
CGintronicDe novo--Yuen2017 G
VPS13B     A28chr8:
100156292-100156293
CTCintronicDe novo--Wu2018 G
VPS13B     2-1094-005chr8:
100026551-100026551
GAintronicDe novo--Yuen2017 G
VPS13B     iHART1776chr8:
100830757-100830757
CTexonicPaternalstopgainNM_017890
NM_152564
c.C8515T
c.C8440T
p.R2839X
p.R2814X
50.08.241E-6Ruzzo2019 G
VPS13B     2-0068-003chr8:
100830821-100830821
AGintronicDe novo--Yuen2017 G
VPS13B     iHART1925chr8:
100654495-100654497
CTTCexonicMaternalframeshift deletionNM_017890
NM_152564
c.5753_5754del
c.5678_5679del
p.L1918fs
p.L1893fs
--Ruzzo2019 G
VPS13B     7-0059-003chr8:
100191146-100191146
GAintronicDe novo--Yuen2017 G
VPS13B     7-0059-003chr8:
100826940-100826940
AGintronicDe novo--Yuen2017 G
VPS13B     PN400424chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     iHART2747chr8:
100847523-100847523
TTAexonicMaternalframeshift insertionNM_017890
NM_152564
c.9789dupA
c.9714dupA
p.V3263fs
p.V3238fs
--Ruzzo2019 G
VPS13B     Li2017:17649chr8:
100403908-100403908
CAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.C3058A
c.C3058A
p.P1020T
p.P1020T
31.0-Li2017 T
VPS13B     iHART3160chr8:
100133467-100133468
TATexonicPaternalframeshift deletionNM_015243
NM_017890
NM_152564
NM_181661
c.1001delA
c.1001delA
c.1001delA
c.1001delA
p.Y334fs
p.Y334fs
p.Y334fs
p.Y334fs
--Ruzzo2019 G
VPS13B     iHART3163chr8:
100133467-100133468
TATexonicPaternalframeshift deletionNM_015243
NM_017890
NM_152564
NM_181661
c.1001delA
c.1001delA
c.1001delA
c.1001delA
p.Y334fs
p.Y334fs
p.Y334fs
p.Y334fs
--Ruzzo2019 G
VPS13B     2-0022-005chr8:
100565303-100565303
CGintronicDe novo--Yuen2017 G
VPS13B     Li2017:17674chr8:
100871586-100871586
GCexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G10997C
c.G10922C
p.S3666T
p.S3641T
21.1-Li2017 T
VPS13B     AU4093304chr8:
100384473-100384473
GAintronicDe novo--Yuen2017 G
VPS13B     5-0105-003chr8:
100156961-100156961
TCintronicDe novo--Yuen2017 G
VPS13B     1-0065-005chr8:
100743477-100743477
CTintronicDe novo--Yuen2017 G
VPS13B     2-1323-003chr8:
100843101-100843101
GAintronicDe novo--Yuen2017 G
VPS13B     AU007503chr8:
100264852-100264852
GTintronicDe novo--Yuen2017 G
VPS13B     AU009904chr8:
100602118-100602118
TCintronicDe novo--Yuen2017 G
VPS13B     AU4356302chr8:
100707442-100707442
TCintronicDe novo--Yuen2017 G
VPS13B     1-0554-003chr8:
100085424-100085424
TTAintronicDe novo--Yuen2017 G
VPS13B     AU050910chr8:
100111603-100111603
TCintronicDe novo--Yuen2017 G
VPS13B     2-1617-003chr8:
100247292-100247292
CTintronicDe novo--Yuen2017 G
VPS13B     AU4356302chr8:
100707439-100707439
GTintronicDe novo--Yuen2017 G
VPS13B     PN400380chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     AU-17800chr8:
100205240-100205240
TGexonicInheritednonsynonymous SNVNM_015243
NM_017890
NM_152564
c.T2470G
c.T2470G
c.T2470G
p.S824A
p.S824A
p.S824A
3.7722.0E-4Yu2013 E
VPS13B     1-0455-003chr8:
100488224-100488224
GAintronicDe novo--Yuen2017 G
VPS13B     2-1280-003chr8:
100030011-100030011
CGintronicDe novo--Yuen2016 G
Yuen2017 G
VPS13B     Yalcintepe2021:5chr8:
100866182-100866182
CTexonicMaternalnonsynonymous SNVNM_017890
NM_152564
c.C10640T
c.C10565T
p.T3547I
p.T3522I
19.165.766E-5Yalcintepe2021 T
VPS13B     AU-21100chr8:
100887727-100887727
GGCexonicInheritedframeshift insertionNM_017890
NM_152564
c.11903dupC
c.11828dupC
p.A3968fs
p.A3943fs
-8.237E-6Yu2013 E
VPS13B     PN400391chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     12975.p1chr8:
100168821-100168821
GAexonicDe novosynonymous SNVNM_015243
NM_017890
NM_152564
c.G2058A
c.G2058A
c.G2058A
p.R686R
p.R686R
p.R686R
--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
VPS13B     1-0885-003chr8:
100217481-100217481
AGintronicDe novo--Yuen2017 G
VPS13B     3-0134-000chr8:
100313478-100313478
CTintronicDe novo--Yuen2017 G
VPS13B     AU039304chr8:
100226788-100226788
CTintronicDe novo--Yuen2017 G
VPS13B     SSC06417chr8:
100168821-100168821
GAexonicDe novosynonymous SNVNM_015243
NM_017890
NM_152564
c.G2058A
c.G2058A
c.G2058A
p.R686R
p.R686R
p.R686R
--Lim2017 E
VPS13B     2-1195-003chr8:
100537148-100537148
GAintronicDe novo--Yuen2016 G
Yuen2017 G
VPS13B     PN400259chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 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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