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Results for "SASH1"

Variant Events: 25

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
SASH1     PN400508chr6:
148869462-148869462
GAexonicUnknownnonsynonymous SNVNM_015278c.G3512Ap.R1171Q32.00.0013Leblond2019 E
SASH1     SSC10794chr6:
148865495-148865495
CTexonicDe novosynonymous SNVNM_015278c.C2889Tp.P963P--Lim2017 E
SASH1     NDAR_INVPR953BYH_wes1chr6:
148855947-148855947
GAexonicMosaicnonsynonymous SNVNM_015278c.G2005Ap.E669K31.0-Lim2017 E
SASH1     1-0412-003chr6:
148881361-148881361
CTintergenicDe novo--Yuen2017 G
SASH1     NP063chr6:
148865561-148865561
ACexonicDe novosynonymous SNVNM_015278c.A2955Cp.P985P--Lim2017 E
Satterstrom2020 E
SASH1     AU1795302chr6:
148942302-148942307
AAGTAGAAGintergenicDe novo--Yuen2017 G
SASH1     Cukier2014:37994chr6:
148865690-148865690
CAexonicUnknownnonsynonymous SNVNM_015278c.C3084Ap.S1028R15.150.0052Cukier2014 E
SASH1     7-0254-004chr6:
148929890-148929890
GAintergenicDe novo--Yuen2017 G
SASH1     AU4237304chr6:
148756287-148756287
GAintronicDe novo--Yuen2017 G
SASH1     7-0024-003chr6:
148975453-148975453
CTintergenicDe novo--Yuen2017 G
SASH1     AU4024303chr6:
148956327-148956327
CTintergenicDe novo--Yuen2017 G
SASH1     1-0253-005chr6:
148804113-148804113
CAintronicDe novo--Yuen2017 G
SASH1     2-1094-004chr6:
148844112-148844112
AGintronicDe novo--Yuen2017 G
SASH1     AU076705chr6:
148824228-148824228
CTintronicDe novo--Yuen2017 G
SASH1     AU1955302chr6:
149004953-149004953
CAintergenicDe novo--Yuen2017 G
SASH1     14496.p1chr6:
148808258-148808258
TCintronicDe novo--Turner2016 G
SASH1     TAS_F9002Ychr6:
148664345-148664345
GAexonicDe novononsynonymous SNVNM_015278c.G142Ap.V48M15.86-Satterstrom2020 E
SASH1     14297.p1chr6:
148865495-148865495
CTexonicDe novosynonymous SNVNM_015278c.C2889Tp.P963P--Krumm2015 E
Satterstrom2020 E
SASH1     1-0539-003chr6:
148835274-148835274
CTintronicDe novo--Yuen2017 G
SASH1     2-1337-003chr6:
148870864-148870864
CGUTR3De novo--Yuen2016 G
Yuen2017 G
SASH1     7-0250-003chr6:
148997920-148997920
AGintergenicDe novo--Yuen2017 G
SASH1     PN400486chr6:
148869462-148869462
GAexonicUnknownnonsynonymous SNVNM_015278c.G3512Ap.R1171Q32.00.0013Leblond2019 E
SASH1     14664.p1chr6:
148711366-148711366
CTexonicDe novononsynonymous SNVNM_015278c.C253Tp.R85W26.11.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SASH1     11685.p1chr6:
148835535-148835535
CTexonicDe novononsynonymous SNVNM_015278c.C805Tp.R269C32.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
SASH1     AU3727302chr6:
148940615-148940615
GAintergenicDe 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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