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Results for "MINK1"

Variant Events: 9

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
MINK1     649-04-102027chr17:
4797485-4797485
GAexonicDe novononsynonymous SNVNM_015716
NM_001024937
NM_153827
NM_170663
c.G2576A
c.G2627A
c.G2687A
c.G2600A
p.R859Q
p.R876Q
p.R896Q
p.R867Q
16.674.151E-5Satterstrom2020 E
MINK1     72-0745chr17:
4799506-4799506
CTexonicInheritednonsynonymous SNVNM_015716
NM_001024937
NM_153827
NM_170663
c.C3373T
c.C3424T
c.C3484T
c.C3397T
p.H1125Y
p.H1142Y
p.H1162Y
p.H1133Y
18.472.633E-5Patowary2019 E
MINK1     111304chr17:
4796055-4796055
GAexonicnonsynonymous SNVNM_015716
NM_170663
NM_001024937
NM_153827
c.G2192A
c.G2192A
c.G2243A
c.G2303A
p.R731H
p.R731H
p.R748H
p.R768H
22.52.0E-4Woodbury-Smith2022 E
MINK1     AU058105chr17:
4742429-4742429
GAintronicDe novo--Yuen2017 G
MINK1     14522.p1chr17:
4789777-4789777
TCexonicDe novononsynonymous SNVNM_001024937
NM_015716
NM_153827
NM_170663
c.T805C
c.T805C
c.T805C
c.T805C
p.C269R
p.C269R
p.C269R
p.C269R
20.9-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
MINK1     13958.p1chr17:
4799898-4799898
GAintronicDe novo-3.382E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MINK1     1-0075-003chr17:
4781385-4781385
GAintronicDe novo--Yuen2017 G
MINK1     Lim2017:36774chr17:
4789777-4789777
TCexonicDe novononsynonymous SNVNM_001024937
NM_015716
NM_153827
NM_170663
c.T805C
c.T805C
c.T805C
c.T805C
p.C269R
p.C269R
p.C269R
p.C269R
20.9-Lim2017 E
MINK1     09C81507chr17:
4799902-4799902
TCintronicDe novo-7.717E-5Kosmicki2017 E
Satterstrom2020 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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