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Results for "SMC2"

Variant Events: 25

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
SMC2     1-0494-003Achr9:
107042047-107042047
CTintergenicDe novo--Yuen2017 G
SMC2     1-0595-005chr9:
106919502-106919508
TAAAAAGTintergenicDe novo--Yuen2017 G
SMC2     A11chr9:
107030387-107030387
GAintergenicDe novo--Wu2018 G
SMC2     AU3702307chr9:
107124579-107124579
TCintergenicDe novo--Yuen2017 G
SMC2     11252.p1chr9:
107027645-107027645
ATintergenicDe novo--Turner2016 G
SMC2     2-1436-003chr9:
107154830-107154830
GAintergenicDe novo--Yuen2017 G
SMC2     1-0651-003chr9:
107102604-107102604
CTintergenicDe novo--Yuen2017 G
SMC2     AU4212303chr9:
107080929-107080929
CTintergenicDe novo--Yuen2017 G
SMC2     2-1456-003chr9:
107053266-107053266
GAintergenicDe novo--Yuen2017 G
SMC2     1-0494-003chr9:
107042047-107042047
CTintergenicDe novo--Yuen2017 G
SMC2     AU1542301chr9:
107081683-107081683
GAintergenicDe novo--Yuen2017 G
SMC2     AU4463303chr9:
107187064-107187064
GAintergenicDe novo--Yuen2017 G
SMC2     AU3517302chr9:
106977965-106977965
GAintergenicDe novo--Yuen2017 G
SMC2     AU4392302chr9:
107046781-107046781
AGintergenicDe novo--Yuen2017 G
SMC2     7-0188-003chr9:
107218012-107218012
GAintergenicDe novo--Yuen2017 G
SMC2     AU3190305chr9:
107147744-107147744
AGintergenicDe novo--Yuen2017 G
SMC2     AU4007302chr9:
107067258-107067258
GAintergenicDe novo--Yuen2017 G
SMC2     AU047704chr9:
107034874-107034874
TCintergenicDe novo--Yuen2017 G
SMC2     2-1295-003chr9:
106898598-106898598
ACintronicDe novo--Yuen2016 G
Yuen2017 G
SMC2     AU4129303chr9:
106865462-106865462
AGintronicDe novo--Yuen2017 G
SMC2     1-0701-003chr9:
107096210-107096210
AGintergenicDe novo--Yuen2017 G
SMC2     A17chr9:
106962886-106962886
GAintergenicDe novo--Wu2018 G
SMC2     2-1297-004chr9:
107171796-107171796
GAintergenicDe novo--Yuen2017 G
SMC2     1-0595-004chr9:
106919502-106919508
TAAAAAGTintergenicDe novo--Yuen2017 G
SMC2     AU072005chr9:
106866535-106866535
AGintronicDe 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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