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Results for "MCPH1"

Variant Events: 15

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
MCPH1     13018.p1chr8:
6302217-6302217
CTexonicDe novononsynonymous SNVNM_001172575
NM_001172574
NM_024596
c.C830T
c.C974T
c.C974T
p.T277M
p.T325M
p.T325M
8.232.501E-5Krumm2015 E
MCPH1     1-0119-004chr8:
6448761-6448761
CTintronicDe novo--Yuen2017 G
MCPH1     7-0175-003chr8:
6431689-6431689
AGintronicDe novo--Yuen2017 G
MCPH1     2-1715-003chr8:
6298565-6298565
GAintronicDe novo--Yuen2017 G
MCPH1     1-0539-003chr8:
6316499-6316499
CTintronicDe novo--Yuen2017 G
MCPH1     7-0194-003chr8:
6329980-6329980
GAintronicDe novo--Yuen2017 G
MCPH1     2-1277-003chr8:
6427123-6427123
AGintronicDe novo--Yuen2017 G
MCPH1     09C97129chr8:
6500546-6500546
TAexonicDe novosynonymous SNVNM_024596c.T2484Ap.P828P--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
MCPH1     Li2017:20261chr8:
6338339-6338339
GAexonicUnknownnonsynonymous SNVNM_024596c.G2078Ap.R693H22.62.484E-5Li2017 T
MCPH1     1-0514-003chr8:
6427329-6427329
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MCPH1     AU2950302chr8:
6270618-6270618
GAintronicDe novo--Yuen2017 G
MCPH1     iHART1565chr8:
6312663-6312663
GCsplicingMaternalsplicing8.291-Ruzzo2019 G
MCPH1     2-1391-003chr8:
6329508-6329508
TTACTGintronicDe novo--Yuen2017 G
MCPH1     SSC06969chr8:
6302217-6302217
CTexonicDe novononsynonymous SNVNM_001172575
NM_001172574
NM_024596
c.C830T
c.C974T
c.C974T
p.T277M
p.T325M
p.T325M
8.232.501E-5Lim2017 E
MCPH1     iHART1787chr8:
6479205-6479205
GAexonicPaternalstopgainNM_024596c.G2445Ap.W815X37.0-Ruzzo2019 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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