or
or
Exact

Results for "MED1"

Variant Events: 9

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
MED1     Codina-Sola2015:ASD_17chr17:
37563901-37563901
AATexonicMaternalframeshift insertionNM_004774c.4572dupAp.S1525fs--Codina-Sola2015 E
MED1     A13chr17:
37601335-37601335
ACintronicDe novo--Wu2018 G
MED1     1-0296-003chr17:
37613023-37613023
TTGAGTTCCintergenicDe novo--Yuen2017 G
MED1     13698.p1chr17:
37596839-37596839
TCintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
MED1     2-1696-003chr17:
37607445-37607445
TGUTR5De novo--Yuen2017 G
MED1     1-0458-005chr17:
37588323-37588323
GAintronicDe novo--Yuen2017 G
MED1     AU045010chr17:
37611258-37611258
GAintergenicDe novo--Yuen2017 G
MED1     1-0458-005chr17:
37580763-37580763
TCintronicDe novo--Yuen2017 G
MED1     08C78533chr17:
37580003-37580003
GTexonicDe novononsynonymous SNVNM_004774c.C923Ap.P308H16.95-Satterstrom2020 E
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