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Results for "SACS"

Variant Events: 13

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
SACS     AU027506chr13:
24034067-24034067
ATintergenicDe novo--Yuen2017 G
SACS     SP0009232chr13:
23909440-23909440
GAexonicDe novononsynonymous SNVNM_001278055
NM_014363
c.C8134T
c.C8575T
p.H2712Y
p.H2859Y
22.3-Feliciano2019 E
SACS     Lim2017:68728chr13:
23914892-23914892
CGexonicDe novononsynonymous SNVNM_001278055
NM_014363
c.G2682C
c.G3123C
p.Q894H
p.Q1041H
1.43-Lim2017 E
SACS     07C71131chr13:
23914270-23914270
GAexonicDe novostopgainNM_001278055
NM_014363
c.C3304T
c.C3745T
p.Q1102X
p.Q1249X
54.0-Satterstrom2020 E
SACS     JASD_Fam0010chr13:
23905698-23905698
AGexonicDe novononsynonymous SNVNM_001278055
NM_014363
c.T11876C
c.T12317C
p.L3959P
p.L4106P
12.78-Takata2018 E
SACS     1-0162-004chr13:
24025044-24025044
TCintergenicDe novo--Yuen2017 G
SACS     7-0174-003chr13:
23911857-23911857
TCexonicDe novononsynonymous SNVNM_001278055
NM_014363
c.A5717G
c.A6158G
p.E1906G
p.E2053G
17.73-Yuen2017 G
SACS     SP0039516chr13:
23914970-23914970
CAexonicDe novononsynonymous SNVNM_001278055
NM_014363
c.G2604T
c.G3045T
p.W868C
p.W1015C
23.3-Feliciano2019 E
SACS     1-0568-003chr13:
24007452-24007452
TAintronicDe novo--Yuen2017 G
SACS     iHART1042chr13:
23910808-23910810
CAACexonicPaternalframeshift deletionNM_001278055
NM_014363
c.6764_6765del
c.7205_7206del
p.L2255fs
p.L2402fs
-1.663E-5Ruzzo2019 G
SACS     133350chr13:
23904448-23904448
CTexonicnonsynonymous SNVNM_001278055
NM_014363
c.G13126A
c.G13567A
p.V4376I
p.V4523I
22.8-Woodbury-Smith2022 E
SACS     AU1698302chr13:
23918938-23918938
GTintronicDe novo--Yuen2017 G
SACS     12648.p1chr13:
23914892-23914892
CGexonicDe novononsynonymous SNVNM_001278055
NM_014363
c.G2682C
c.G3123C
p.Q894H
p.Q1041H
1.43-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 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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