Variant Results

or

Results for "MCM6"

Variant Events: 12

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

MCM6

3-0456-000

chr2:
136644026-136644026

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MCM6

AU038203

chr2:
136617003-136617003

C

T

exonic

De novo

synonymous SNV

NM_005915

c.G1230A

p.E410E

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MCM6

1032

chr2:
136603963-136603963

C

T

splicing

De novo

splicing

19.12

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

MCM6

SSC11185

chr2:
136610419-136610419

G

A

exonic

De novo

nonsynonymous SNV

NM_005915

c.C1693T

p.R565C

15.74

-

Fu2022 E
Trost2022 G

MCM6

14216.p1

chr2:
136610419-136610419

G

A

exonic

De novo

nonsynonymous SNV

NM_005915

c.C1693T

p.R565C

15.74

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

MCM6

SP0107038

chr2:
136620315-136620315

T

C

exonic

De novo

nonsynonymous SNV

NM_005915

c.A1082G

p.N361S

21.8

0.004

Trost2022 G

MCM6

3-0456-000B

chr2:
136644026-136644026

G

A

intergenic

De novo

-

Yuen2017 G

MCM6

SP0061913

chr2:
136616913-136616913

A

C

exonic

De novo

nonsynonymous SNV

NM_005915

c.T1320G

p.H440Q

17.67

-

Fu2022 E

MCM6

JASD_Fam0186

chr2:
136626351-136626351

G

A

exonic

De novo

nonsynonymous SNV

NM_005915

c.C445T

p.P149S

33.0

-

Takata2018 E

MCM6

2-1292-003

chr2:
136603919-136603919

G

A

exonic

De novo

synonymous SNV

NM_005915

c.C2097T

p.Y699Y

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

MCM6

AU3632301

chr2:
136623283-136623283

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MCM6

NP140

chr2:
136626351-136626351

G

A

exonic

De novo

nonsynonymous SNV

NM_005915

c.C445T

p.P149S

33.0

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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