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Results for "SMAD6"

Variant Events: 24

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
SMAD6     5-0103-003chr15:
67306000-67306000
GAintergenicDe novo--Yuen2017 G
SMAD6     2-1337-003chr15:
67041307-67041307
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SMAD6     2-1635-004chr15:
67191825-67191836
GACACCCAGCTAGintergenicDe novo--Yuen2017 G
SMAD6     14671.p1chr15:
67073550-67073550
GAexonicDe novononsynonymous SNVNM_005585c.G1168Ap.G390S35.08.968E-6Ji2016 E
Krumm2015 E
Satterstrom2020 E
SMAD6     1-0119-004chr15:
67309698-67309698
GCintergenicDe novo--Yuen2017 G
SMAD6     2-1228-003chr15:
67317543-67317543
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
SMAD6     AU3727303chr15:
67336566-67336566
CTintergenicDe novo--Yuen2017 G
SMAD6     2-0197-004chr15:
67049553-67049553
TGintronicDe novo--Yuen2017 G
SMAD6     2-1163-003chr15:
67237102-67237102
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SMAD6     AU4344301chr15:
67351337-67351337
CGintergenicDe novo--Yuen2017 G
SMAD6     2-1266-003chr15:
67029096-67029096
ATintronicDe novo--Yuen2017 G
SMAD6     AU027506chr15:
67263242-67263242
GAintergenicDe novo--Yuen2017 G
SMAD6     1-0387-003chr15:
67089022-67089022
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
SMAD6     2-1620-004chr15:
67160192-67160192
GAintergenicDe novo--Yuen2017 G
SMAD6     5-0055-004chr15:
67339939-67339939
TAintergenicDe novo--Yuen2017 G
SMAD6     AU4250301chr15:
67318999-67318999
GTintergenicDe novo--Yuen2017 G
SMAD6     SP0121598chr15:
66996411-66996411
CTexonicDe novononsynonymous SNVNM_005585c.C815Tp.P272L21.0-Fu2022 E
SMAD6     SP0069614chr15:
66996127-66996127
CGexonicDe novostopgainNM_005585c.C531Gp.Y177X24.7-Fu2022 E
SMAD6     2-1561-003chr15:
67309104-67309104
AGintergenicDe novo--Yuen2017 G
SMAD6     AU3724302chr15:
67322112-67322112
GAintergenicDe novo--Yuen2017 G
SMAD6     SSC12940chr15:
67073550-67073550
GAexonicDe novononsynonymous SNVNM_005585c.G1168Ap.G390S35.08.968E-6Fu2022 E
Lim2017 E
SMAD6     Bruno2021:XIVchr15:
66995736-66995736
CCCexonicDe novoframeshift insertionNM_005585c.140dupCp.P47fs--Bruno2021 E
SMAD6     1-0487-003chr15:
67283222-67283222
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SMAD6     AU3849302chr15:
67031672-67031672
CTintronicDe novo--Yuen2017 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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