or
or
Exact

Results for "MDC1"

Variant Events: 10

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
MDC1     12498.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
MDC1     12498.p1chr6:
30666779-30666779
TCdownstreamDe novo--Turner2016 G
MDC1     Codina-Sola2015:ASD_32chr6:
30681076-30681081
TGAAGGTexonicPaternalframeshift deletionNM_014641c.638_642delp.A213fs-0.0018Codina-Sola2015 E
MDC1     Cukier2014:37425chr6:
30679963-30679963
ACexonicUnknownnonsynonymous SNVNM_014641c.T1756Gp.S586A7.1930.0053Cukier2014 E
MDC1     01C05532chr6:
30682820-30682820
TCexonicDe novononsynonymous SNVNM_014641c.A133Gp.K45E16.2-Satterstrom2020 E
MDC1     AU11304chr6:
30672041-30672041
CTexonicDe novononsynonymous SNVNM_014641c.G4919Ap.R1640K0.788-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MDC1     10C105876chr6:
30681921-30681921
AGexonicDe novononsynonymous SNVNM_014641c.T176Cp.M59T12.08-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MDC1     Cukier2014:37425chr6:
30680968-30680968
CTexonicUnknownnonsynonymous SNVNM_014641c.G751Ap.E251K11.690.0053Cukier2014 E
MDC1     05HI4255Achr6:
30680389-30680389
GAexonicDe novostopgainNM_014641c.C1330Tp.R444X38.0-Satterstrom2020 E
MDC1     2-1715-003chr6:
30673010-30673010
GAexonicDe novononsynonymous SNVNM_014641c.C3950Tp.S1317F13.73-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