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Results for "SMC5"

Variant Events: 18

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
SMC5     AU3809302chr9:
72909624-72909624
ATintronicDe novo--Trost2022 G
Yuen2017 G
SMC5     mAGRE5816chr9:
72965054-72965054
CTexonicMaternalstopgainNM_015110c.C2914Tp.R972X41.0-Cirnigliaro2023 G
SMC5     SP0089121chr9:
72965236-72965236
TGintronicDe novo--Fu2022 E
Trost2022 G
SMC5     SP0086270chr9:
72959223-72959223
TCintronicDe novo--Fu2022 E
SMC5     2-1801-003chr9:
72919555-72919555
AGintronicDe novo--Trost2022 G
SMC5     7-0459-003chr9:
72941239-72941239
CTintronicDe novo--Trost2022 G
SMC5     2-1458-003chr9:
72900347-72900347
CTintronicDe novo--Trost2022 G
SMC5     mAGRE5818chr9:
72965054-72965054
CTexonicMaternalstopgainNM_015110c.C2914Tp.R972X41.0-Cirnigliaro2023 G
SMC5     AU1698302chr9:
72950514-72950514
TGintronicDe novo--Trost2022 G
Yuen2017 G
SMC5     SMHC01963s000chr9:
72933710-72933710
GTexonicDe novostopgainNM_015110c.G1981Tp.E661X28.7-Yuan2023 E
SMC5     13946.p1chr9:
72990234-72990234
TCintergenicDe novo--Turner2016 G
SMC5     80001102379chr9:
72962624-72962624
CCTexonicDe novoframeshift insertionNM_015110c.2760_2761insTp.N920fs--Fu2022 E
SMC5     11518.p1chr9:
72901094-72901094
TCintronicDe novo-0.003Krumm2015 E
SMC5     2-0081-003chr9:
72952505-72952505
GTintronicDe novo--Yuen2017 G
SMC5     3-0396-000chr9:
72953989-72953989
GTintronicDe novo--Trost2022 G
Yuen2016 G
SMC5     13517.p1chr9:
72901094-72901094
TCintronicDe novo-0.003Krumm2015 E
SMC5     13008.p1chr9:
72901094-72901094
TCintronicDe novo-0.003Krumm2015 E
SMC5     7-0248-003chr9:
72939340-72939340
CTintronicDe novo--Trost2022 G
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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