Variant Results

or

Results for "MINK1"

Variant Events: 18

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

649-04-102027

chr17:
4797485-4797485

G

A

exonic

De novo

nonsynonymous SNV

NM_015716
NM_001024937
NM_153827
NM_170663

c.G2576A
c.G2627A
c.G2687A
c.G2600A

p.R859Q
p.R876Q
p.R896Q
p.R867Q

16.67

4.151E-5

Fu2022 E
Satterstrom2020 E

MINK1

AU058105

chr17:
4742429-4742429

G

A

intronic

De novo

-

Yuen2017 G

MINK1

SP0025551

chr17:
4790433-4790433

C

T

exonic

De novo

synonymous SNV

NM_001024937
NM_015716
NM_153827
NM_170663

c.C978T
c.C978T
c.C978T
c.C978T

p.S326S
p.S326S
p.S326S
p.S326S

-

1.0E-4

Fu2022 E

MINK1

SP0003127

chr17:
4795676-4795676

A

C

intronic

De novo

-

Fu2022 E

MINK1

Lim2017:36774

chr17:
4789777-4789777

T

C

exonic

De novo

nonsynonymous SNV

NM_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

SP0076596

chr17:
4798696-4798696

G

A

exonic

De novo

nonsynonymous SNV

NM_015716
NM_001024937
NM_153827
NM_170663

c.G3026A
c.G3077A
c.G3137A
c.G3050A

p.S1009N
p.S1026N
p.S1046N
p.S1017N

20.7

-

Fu2022 E

MINK1

09C81507

chr17:
4799902-4799902

T

C

intronic

De novo

-

7.717E-5

Kosmicki2017 E
Satterstrom2020 E

MINK1

SP0035081

chr17:
4798780-4798780

C

T

exonic

De novo

nonsynonymous SNV

NM_015716
NM_001024937
NM_153827
NM_170663

c.C3110T
c.C3161T
c.C3221T
c.C3134T

p.T1037I
p.T1054I
p.T1074I
p.T1045I

26.1

-

Fu2022 E

MINK1

SP0091871

chr17:
4789469-4789469

C

G

exonic

De novo

nonsynonymous SNV

NM_001024937
NM_015716
NM_153827
NM_170663

c.C749G
c.C749G
c.C749G
c.C749G

p.P250R
p.P250R
p.P250R
p.P250R

25.4

-

Antaki2022 GE
Fu2022 E

MINK1

SSC10292

chr17:
4800089-4800089

T

C

exonic

nonsynonymous SNV

NM_015716
NM_001024937
NM_153827
NM_170663

c.T3785C
c.T3836C
c.T3896C
c.T3809C

p.L1262P
p.L1279P
p.L1299P
p.L1270P

18.03

-

Antaki2022 GE

MINK1

SSC12727

chr17:
4789777-4789777

T

C

exonic

nonsynonymous SNV

NM_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

-

Antaki2022 GE

MINK1

72-0745

chr17:
4799506-4799506

C

T

exonic

Inherited

nonsynonymous SNV

NM_015716
NM_001024937
NM_153827
NM_170663

c.C3373T
c.C3424T
c.C3484T
c.C3397T

p.H1125Y
p.H1142Y
p.H1162Y
p.H1133Y

18.47

2.633E-5

Patowary2019 E

MINK1

111304

chr17:
4796055-4796055

G

A

exonic

nonsynonymous SNV

NM_015716
NM_170663
NM_001024937
NM_153827

c.G2192A
c.G2192A
c.G2243A
c.G2303A

p.R731H
p.R731H
p.R748H
p.R768H

22.5

2.0E-4

Woodbury-Smith2022 E

MINK1

14522.p1

chr17:
4789777-4789777

T

C

exonic

De novo

nonsynonymous SNV

NM_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.p1

chr17:
4799898-4799898

G

A

intronic

De novo

-

3.382E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

MINK1

1-0075-003

chr17:
4781385-4781385

G

A

intronic

De novo

-

Yuen2017 G

MINK1

150365

chr17:
4789435-4789435

A

C

exonic

De novo

nonsynonymous SNV

NM_001024937
NM_015716
NM_153827
NM_170663

c.A715C
c.A715C
c.A715C
c.A715C

p.M239L
p.M239L
p.M239L
p.M239L

18.52

-

Fu2022 E

MINK1

36774

chr17:
4789777-4789777

T

C

exonic

De novo

nonsynonymous SNV

NM_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

-

Fu2022 E

Source Variant Information

, -

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 notes	View
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