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Results for "YAF2"

Variant Events: 13

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
YAF2     2-0503-004chr12:
42666030-42666030
TAintergenicDe novo--Yuen2017 G
YAF2     2-1373-003chr12:
42580619-42580619
AGintronicDe novo--Yuen2016 G
YAF2     5-0138-003chr12:
42623668-42623668
CTintronicDe novo--Trost2022 G
Yuen2017 G
YAF2     1-0248-003chr12:
42636228-42636228
GAintergenicDe novo--Yuen2017 G
YAF2     2-0014-003chr12:
42630524-42630524
TCintronicDe novo--Trost2022 G
YAF2     1-0253-004chr12:
42555824-42555824
GAintronicDe novo--Trost2022 G
Yuen2017 G
YAF2     7-0249-003chr12:
42610515-42610515
TCintronicDe novo--Trost2022 G
Yuen2017 G
YAF2     2-1625-003chr12:
42615503-42615503
ACintronicDe novo--Trost2022 G
YAF2     2-1645-003chr12:
42671278-42671278
TCintergenicDe novo--Yuen2017 G
YAF2     2-0503-003chr12:
42666030-42666030
TAintergenicDe novo--Yuen2017 G
YAF2     AU4069301chr12:
42597335-42597335
CTintronicDe novo--Trost2022 G
Yuen2017 G
YAF2     AU4145303chr12:
42683670-42683670
GAintergenicDe novo--Yuen2017 G
YAF2     P1411chr12:
42629785-42629785
CAexonicDe novononsynonymous SNVNM_001190980c.G167Tp.G56V8.575-Hashimoto2016 E
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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