or
or
Exact

Results for "SMCHD1"

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
SMCHD1     1-0467-003chr18:
2825324-2825325
TGTintergenicDe novo--Yuen2017 G
SMCHD1     14136.p1chr18:
2697802-2697802
AGintronicDe novo--Satterstrom2020 E
SMCHD1     DEASD_0134_001chr18:
2666192-2666192
AGexonicDe novononsynonymous SNVNM_015295c.A223Gp.T75A11.2-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SMCHD1     200675506@1082035037chr18:
2667020-2667020
AGexonicDe novosynonymous SNVNM_015295c.A414Gp.Q138Q--Satterstrom2020 E
SMCHD1     10C101297chr18:
2743776-2743776
AGexonicDe novononsynonymous SNVNM_015295c.A3651Gp.I1217M9.723-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
SMCHD1     AU3725302chr18:
2778789-2778789
CTintronicDe novo--Yuen2017 G
SMCHD1     150941812chr18:
2743776-2743776
AGexonicDe novononsynonymous SNVNM_015295c.A3651Gp.I1217M9.723-Satterstrom2020 E
SMCHD1     AU3861302chr18:
2772292-2772292
ACexonicDe novononsynonymous SNVNM_015295c.A5097Cp.Q1699H15.7-Yuen2017 G
SMCHD1     Chen2017:63chr18:
2667020-2667020
AGexonicDe novosynonymous SNVNM_015295c.A414Gp.Q138Q--Chen2017 E
SMCHD1     AU072005chr18:
2772084-2772097
TTGTGTGTGTGTGTTTGTGTGTGTintronicDe 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