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Results for "MINDY2"

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
MINDY2     09C98975chr15:
59064294-59064294
AGexonicDe novononsynonymous SNVNM_001040450
NM_001040453
c.A700G
c.A700G
p.K234E
p.K234E
17.328.368E-6DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
MINDY2     AU1448301chr15:
59140613-59140613
AGintronicDe novo--Yuen2017 G
MINDY2     iHART1080chr15:
59143997-59143997
CTexonicMaternalstopgainNM_001040450
NM_001040453
c.C1570T
c.C1570T
p.Q524X
p.Q524X
37.0-Ruzzo2019 G
MINDY2     5-0083-003chr15:
59104876-59104876
TGintronicDe novo--Yuen2017 G
MINDY2     1-0560-003chr15:
59085840-59085840
AGintronicDe novo--Yuen2017 G
MINDY2     AU1725302chr15:
59141820-59141820
CAintronicDe novo--Yuen2017 G
MINDY2     2-1341-004chr15:
59133856-59133856
GAintronicDe novo--Yuen2017 G
MINDY2     AU030703chr15:
59126598-59126598
GAintronicDe 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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