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Results for "MINDY2"

Variant Events: 19

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     7-0332-003chr15:
59108589-59108589
TAintronicDe novo--Trost2022 G
MINDY2     REACH000182chr15:
59115170-59115170
GAintronicDe novo--Trost2022 G
MINDY2     09C98975chr15:
59064294-59064294
AGexonicDe novononsynonymous SNVNM_001040450
NM_001040453
c.A700G
c.A700G
p.K234E
p.K234E
17.328.368E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MINDY2     SP0029845chr15:
59094493-59094494
TCTintronicDe novo-7.0E-4Fu2022 E
MINDY2     7-0456-003chr15:
59085079-59085079
TCintronicDe novo--Trost2022 G
MINDY2     SP0141666chr15:
59102544-59102544
TGexonicDe novononsynonymous SNVNM_001040450
NM_001040453
c.T1079G
c.T1079G
p.L360R
p.L360R
25.7-Trost2022 G
MINDY2     mAGRE1080chr15:
59143997-59143997
CTexonicMaternalstopgainNM_001040450
NM_001040453
c.C1570T
c.C1570T
p.Q524X
p.Q524X
37.0-Cirnigliaro2023 G
MINDY2     1-0560-003chr15:
59085840-59085840
AGintronicDe novo--Trost2022 G
Yuen2017 G
MINDY2     2-1341-004chr15:
59133856-59133856
GAintronicDe novo--Trost2022 G
Yuen2017 G
MINDY2     MSSNG00019-003Achr15:
59151989-59151989
GAintergenicDe novo--Trost2022 G
MINDY2     AU030703chr15:
59126598-59126598
GAintronicDe novo--Trost2022 G
Yuen2017 G
MINDY2     7-0225-003chr15:
59141554-59141554
ACintronicDe novo--Trost2022 G
MINDY2     MSSNG00328-003chr15:
59145102-59145102
ATintronicDe novo--Trost2022 G
MINDY2     AU2320301chr15:
59137241-59137241
AGintronicDe novo--Trost2022 G
MINDY2     4-0075-003chr15:
59139752-59139752
TGintronicDe novo--Trost2022 G
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--Trost2022 G
Yuen2017 G
MINDY2     AU1725302chr15:
59141820-59141820
CAintronicDe novo--Trost2022 G
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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