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Results for "SPATA6L"

Variant Events: 8

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
SPATA6L     1-0373-003chr9:
4601101-4601101
TGintronicDe novo--Yuen2017 G
SPATA6L     13415.p1chr9:
4605416-4605416
TAexonicDe novosynonymous SNVNM_001039395c.A846Tp.T282T5.743-Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
SPATA6L     5-0146-003chr9:
4610221-4610221
CGintronicDe novo--Yuen2017 G
SPATA6L     11954.p1chr9:
4656185-4656185
TAintronicDe novo--Krumm2015 E
SPATA6L     2-1507-003chr9:
4630920-4630920
TCintronicDe novo--Yuen2017 G
SPATA6L     5-0146-003chr9:
4600711-4600711
CGUTR3De novo--Yuen2017 G
SPATA6L     5-0146-003chr9:
4605342-4605342
CGintronicDe novo--Yuen2017 G
SPATA6L     5-0146-003chr9:
4607456-4607456
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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