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Results for "SETD1A"

Variant Events: 11

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
SETD1A     AU2525302chr16:
30980178-30980178
CTintronicDe novo--Yuen2017 G
SETD1A     200675290@1082034269chr16:
30975596-30975596
CTexonicDe novononsynonymous SNVNM_014712c.C821Tp.T274M16.586.604E-5Satterstrom2020 E
SETD1A     14402.p1chr16:
30981006-30981006
GAexonicDe novosynonymous SNVNM_014712c.G3012Ap.S1004S--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SETD1A     1-0065-004chr16:
30991353-30991353
GAexonicDe novononsynonymous SNVNM_014712c.G4246Ap.E1416K8.8892.02E-5Yuen2017 G
SETD1A     Chen2017:7chr16:
30975596-30975596
CTexonicDe novononsynonymous SNVNM_014712c.C821Tp.T274M16.586.604E-5Chen2017 E
SETD1A     13815.p1chr16:
30992032-30992032
CTintronicDe novo--Satterstrom2020 E
SETD1A     Lim2017:36161chr16:
30981006-30981006
GAexonicDe novosynonymous SNVNM_014712c.G3012Ap.S1004S--Lim2017 E
SETD1A     DEASD_1060_001chr16:
30991042-30991042
CTexonicDe novononsynonymous SNVNM_014712c.C3935Tp.A1312V4.3747.705E-5Satterstrom2020 E
SETD1A     11143.p1chr16:
30978401-30978401
TCintronicDe novo--Krumm2015 E
Satterstrom2020 E
SETD1A     7-0219-003chr16:
30978879-30978879
CTexonicDe novononsynonymous SNVNM_014712c.C2740Tp.P914S21.5-Yuen2017 G
SETD1A     SP0031524chr16:
30976438-30976438
TTCexonicDe novoframeshift insertionNM_014712c.1376dupCp.S459fs--Feliciano2019 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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