or
or
Exact

Results for "ASPM"

Variant Events: 27

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
ASPM     11939.p1chr1:
197073712-197073712
AGexonicDe novononsynonymous SNVNM_018136c.T4669Cp.C1557R1.7198.29E-6Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
ASPM     2-1325-003chr1:
197091463-197091463
GAintronicDe novo-4.159E-5Yuen2016 G
Yuen2017 G
ASPM     1-0520-003chr1:
197111815-197111815
TGexonicDe novononsynonymous SNVNM_001206846
NM_018136
c.A1567C
c.A1567C
p.S523R
p.S523R
17.75-Yuen2016 G
Yuen2017 G
ASPM     A19chr1:
197072727-197072727
TCexonicDe novononsynonymous SNVNM_018136c.A5654Gp.Y1885C15.18.311E-6Wu2018 G
ASPM     A13chr1:
197074072-197074072
GTexonicDe novononsynonymous SNVNM_018136c.C4309Ap.R1437S12.17-Wu2018 G
ASPM     08C72349chr1:
197111502-197111502
CTexonicDe novononsynonymous SNVNM_001206846
NM_018136
c.G1880A
c.G1880A
p.R627H
p.R627H
11.974.121E-5Satterstrom2020 E
ASPM     A18chr1:
197073381-197073381
CTexonicDe novononsynonymous SNVNM_018136c.G5000Ap.R1667H24.92.498E-5Wu2018 G
ASPM     A11chr1:
197057391-197057391
CTexonicDe novononsynonymous SNVNM_001206846
NM_018136
c.G5401A
c.G10156A
p.A1801T
p.A3386T
25.2-Wu2018 G
ASPM     A3chr1:
197070283-197070283
GCexonicDe novononsynonymous SNVNM_018136c.C8098Gp.R2700G18.56-Wu2018 G
ASPM     A32chr1:
197070283-197070283
GCexonicDe novononsynonymous SNVNM_018136c.C8098Gp.R2700G18.56-Wu2018 G
ASPM     10C105002chr1:
197091463-197091463
GAintronicDe novo-4.159E-5Satterstrom2020 E
ASPM     Li2017:19620chr1:
197098404-197098405
CACexonicUnknownframeshift deletionNM_001206846
NM_018136
c.2672delT
c.2672delT
p.L891fs
p.L891fs
--Li2017 T
ASPM     AU4310301chr1:
197060674-197060674
TAintronicDe novo--Yuen2017 G
ASPM     Li2017:15005chr1:
197072570-197072570
TTGexonicUnknownframeshift insertionNM_018136c.5810_5811insCp.G1937fs--Li2017 T
ASPM     Li2017:23065chr1:
197111914-197111914
GAexonicUnknownnonsynonymous SNVNM_001206846
NM_018136
c.C1468T
c.C1468T
p.R490C
p.R490C
17.518.25E-6Li2017 T
ASPM     Li2017:48chr1:
197073381-197073381
CTexonicUnknownnonsynonymous SNVNM_018136c.G5000Ap.R1667H24.92.498E-5Li2017 T
ASPM     1-0200-004chr1:
197069146-197069146
AAAGCintronicDe novo--Yuen2017 G
ASPM     PN400486chr1:
197072929-197072929
GAexonicUnknownnonsynonymous SNVNM_018136c.C5452Tp.R1818C18.010.0013Leblond2019 E
ASPM     iHART2848chr1:
197070244-197070248
TTTTCTexonicPaternalframeshift deletionNM_018136c.8133_8136delp.K2711fs-6.763E-5Ruzzo2019 G
ASPM     iHART2845chr1:
197070597-197070599
TTCTexonicPaternalframeshift deletionNM_018136c.7782_7783delp.Q2594fs-3.0E-4Ruzzo2019 G
ASPM     Li2017:19687chr1:
197111786-197111790
TATTATexonicUnknownframeshift deletionNM_001206846
NM_018136
c.1592_1595del
c.1592_1595del
p.V531fs
p.V531fs
--Li2017 T
ASPM     iHART2844chr1:
197070597-197070599
TTCTexonicPaternalframeshift deletionNM_018136c.7782_7783delp.Q2594fs-3.0E-4Ruzzo2019 G
ASPM     Li2017:27809chr1:
197091721-197091721
TCexonicUnknownnonsynonymous SNVNM_001206846
NM_018136
c.A3395G
c.A3395G
p.E1132G
p.E1132G
27.0-Li2017 T
ASPM     Li2017:23157chr1:
197073381-197073381
CTexonicUnknownnonsynonymous SNVNM_018136c.G5000Ap.R1667H24.92.498E-5Li2017 T
ASPM     DEASD_1055_001chr1:
197072532-197072532
GAexonicDe novononsynonymous SNVNM_018136c.C5849Tp.A1950V14.22.475E-5Satterstrom2020 E
ASPM     Li2017:7chr1:
197070597-197070599
TTCTexonicUnknownframeshift deletionNM_018136c.7782_7783delp.Q2594fs-3.0E-4Li2017 T
ASPM     A09006-2chr1:
197070597-197070599
TTCTexonicUnknownframeshift deletionNM_018136c.7782_7783delp.Q2594fs-3.0E-4Li2017 T
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