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Results for "SUSD6"

Variant Events: 10

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
SUSD6     AU2975302chr14:
70143278-70143278
ATintronicDe novo--Yuen2017 G
SUSD6     1-0274-004chr14:
70181091-70181091
CTUTR3De novo--Yuen2017 G
SUSD6     G01-GEA-45-HIchr14:
70125417-70125417
CTexonicDe novosynonymous SNVNM_014734c.C108Tp.D36D-8.236E-5Satterstrom2020 E
SUSD6     7-0102-003chr14:
70117421-70117421
CTintronicDe novo--Yuen2017 G
SUSD6     1-0150-004chr14:
70204525-70204525
CTintergenicDe novo--Yuen2017 G
SUSD6     AU4007301chr14:
70122530-70122530
GAintronicDe novo--Yuen2017 G
SUSD6     iHART2799chr14:
70171319-70171319
AGsplicingMaternalsplicing20.4-Ruzzo2019 G
SUSD6     1-0274-003chr14:
70181091-70181091
CTUTR3De novo--Yuen2017 G
SUSD6     AU4015303chr14:
70175319-70175331
CTATTATTATTATCTATTATTATintronicDe novo--Yuen2017 G
SUSD6     AU3849303chr14:
70229607-70229607
GCintergenicDe 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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