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Results for "SLC9A1"

Variant Events: 12

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
SLC9A1     12011.p1chr1:
27531580-27531580
TCintergenicDe novo--Turner2016 G
SLC9A1     AU076704chr1:
27553710-27553710
TGintergenicDe novo--Yuen2017 G
SLC9A1     13177.p1chr1:
27440599-27440599
CGexonicDe novosynonymous SNVNM_003047c.G531Cp.L177L--Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
SLC9A1     1-0565-004chr1:
27480594-27480594
CTexonicDe novononsynonymous SNVNM_003047c.G232Ap.V78I11.12-Yuen2017 G
SLC9A1     AU050604chr1:
27432488-27432488
CTexonicDe novononsynonymous SNVNM_003047c.G1373Ap.R458Q36.0-Yuen2017 G
SLC9A1     13023.p1chr1:
27531580-27531580
TCintergenicDe novo--Turner2016 G
SLC9A1     Lim2017:5023chr1:
27440599-27440599
CGexonicDe novosynonymous SNVNM_003047c.G531Cp.L177L--Lim2017 E
SLC9A1     3E479chr1:
27434393-27434393
GAintronicDe novo-3.0E-4Satterstrom2020 E
SLC9A1     12011.p1chr1:
27531585-27531585
GAintergenicDe novo--Turner2016 G
SLC9A1     1-0253-004chr1:
27489081-27489081
CCTintergenicDe novo--Yuen2017 G
SLC9A1     2-0202-004chr1:
27513383-27513383
GAintergenicDe novo--Yuen2017 G
SLC9A1     AU4149301chr1:
27532068-27532068
GAintergenicDe 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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