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Results for "SDC2"

Variant Events: 16

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
SDC2     1-0779-003chr8:
97624098-97624098
GAdownstreamDe novo--Trost2022 G
SDC2     MSSNG00023-004chr8:
97614135-97614135
CTintronicDe novo--Trost2022 G
SDC2     MSSNG00171-003chr8:
97619770-97619770
AGintronicDe novo--Trost2022 G
SDC2     MSSNG00095-003chr8:
97602603-97602605
CCACintronicDe novo--Trost2022 G
SDC2     MSSNG00421-004chr8:
97613100-97613100
GAintronicDe novo--Trost2022 G
SDC2     2-0309-005chr8:
97585608-97585610
TGTAAGintronicDe novo--Trost2022 G
SDC2     2-1823-004chr8:
97598782-97598782
TAintronicDe novo--Trost2022 G
SDC2     13748.p1chr8:
97632484-97632484
CTintergenicDe novo--Werling2018 G
SDC2     12564.p1chr8:
97506583-97506583
CTintronicMosaic--Dou2017 E
SDC2     AU2022302chr8:
97644926-97644926
ACintergenicDe novo--Yuen2017 G
SDC2     5-0140-003chr8:
97551137-97551137
GAintronicDe novo--Trost2022 G
Yuen2017 G
SDC2     MSSNG00054-005chr8:
97552915-97552915
AGintronicDe novo--Trost2022 G
SDC2     MSSNG00252-003chr8:
97562618-97562618
CGintronicDe novo--Trost2022 G
SDC2     2-1772-003chr8:
97525070-97525070
TGintronicDe novo--Trost2022 G
SDC2     2-0713-003chr8:
97530162-97530162
CTintronicDe novo--Trost2022 G
SDC2     2-0143-004chr8:
97519093-97519093
TCintronicDe novo--Trost2022 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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