or
or
Exact

Results for "MDN1"

Variant Events: 19

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
MDN1     11533.p1chr6:
90468012-90468012
AGexonicDe novosynonymous SNVNM_014611c.T2664Cp.D888D--Krumm2015 E
Satterstrom2020 E
MDN1     2-1148-004chr6:
90423994-90423994
CAintronicDe novo--Yuen2017 G
MDN1     11118.p1chr6:
90491340-90491340
TAintronicDe novo-2.0E-4Satterstrom2020 E
MDN1     11555.p1chr6:
90402347-90402347
GCexonicDe novononsynonymous SNVNM_014611c.C10402Gp.L3468V11.83-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
MDN1     2-1562-003chr6:
90485810-90485810
TCintronicDe novo--Yuen2017 G
MDN1     AU031404chr6:
90458809-90458809
AGintronicDe novo--Yuen2017 G
MDN1     13621.p1chr6:
90489930-90489930
CTsplicingDe novosplicing22.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
MDN1     5-0014-004chr6:
90439212-90439212
TCintronicDe novo--Yuen2017 G
MDN1     SSC02163chr6:
90402347-90402347
GCexonicDe novononsynonymous SNVNM_014611c.C10402Gp.L3468V11.83-Lim2017 E
MDN1     2-0090-003chr6:
90470833-90470833
CTintronicDe novo--Yuen2017 G
MDN1     SSC00403chr6:
90468012-90468012
AGexonicDe novosynonymous SNVNM_014611c.T2664Cp.D888D--Lim2017 E
MDN1     AU4237302chr6:
90425813-90425813
CTintronicDe novo--Yuen2017 G
MDN1     10C101297chr6:
90491342-90491342
ACintronicDe novo-3.0E-4Kosmicki2017 E
MDN1     1-0193-003chr6:
90513922-90513922
CGintronicDe novo--Yuen2017 G
MDN1     1-0489-003chr6:
90515725-90515725
CAintronicDe novo--Yuen2016 G
Yuen2017 G
MDN1     EGAN00001101241chr6:
90396697-90396697
CAexonicDe novononsynonymous SNVNM_014611c.G11496Tp.E3832D17.5-Satterstrom2020 E
MDN1     11456.p1chr6:
90490514-90490514
CTintronicDe novo--Turner2016 G
MDN1     618-04-102273chr6:
90513130-90513130
ATexonicDe novosynonymous SNVNM_014611c.T246Ap.A82A--Satterstrom2020 E
MDN1     1-0990-003chr6:
90413609-90413609
GAintronicDe novo--Yuen2017 G
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