Variant Results

or

Results for "MACF1"

Variant Events: 49

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

MACF1

2-1146-003

chr1:
39779361-39779361

A

G

intronic

De novo

-

Yuen2017 G

MACF1

C218203

chr1:
39799017-39799017

A

C

intronic

De novo

0.043

-

Fu2022 E

MACF1

14196_p1

chr1:
39838232-39838232

A

G

exonic

De novo

nonsynonymous SNV

NM_012090

c.A6991G

p.M2331V

8.865

-

Fu2022 E

MACF1

2-0122-004

chr1:
39637747-39637747

G

T

intronic

De novo

-

Yuen2017 G

MACF1

AU3721301

chr1:
39874223-39874223

G

A

intronic

De novo

-

Yuen2017 G

MACF1

1-0745-003

chr1:
39715346-39715346

G

A

intronic

De novo

-

Yuen2017 G

MACF1

1-0004-003

chr1:
39677547-39677547

T

C

intronic

De novo

-

Yuen2017 G

MACF1

11190.p1

chr1:
39799059-39799059

A

AGG

intronic

De novo

-

Satterstrom2020 E

MACF1

1-0345-004

chr1:
39837230-39837230

A

G

intronic

De novo

-

Yuen2017 G

MACF1

AU4012302

chr1:
39905777-39905778

TC

T

intronic

De novo

-

Yuen2017 G

MACF1

AU4315302

chr1:
39787039-39787039

A

C

intronic

De novo

-

Yuen2017 G

MACF1

PN400518

chr1:
39812757-39812757

C

T

intronic

Unknown

47.0

-

Leblond2019 E

MACF1

1-0010-003

chr1:
39720552-39720552

T

A

intronic

De novo

-

Yuen2017 G

MACF1

1-0180-004

chr1:
39742060-39742060

A

AG

intronic

De novo

-

Yuen2017 G

MACF1

PN400249

chr1:
39903464-39903464

G

A

exonic

Unknown

nonsynonymous SNV

NM_012090

c.G11827A

p.E3943K

35.0

5.0E-4

Leblond2019 E

MACF1

PN400100

chr1:
39903464-39903464

G

A

exonic

Unknown

nonsynonymous SNV

NM_012090

c.G11827A

p.E3943K

35.0

5.0E-4

Leblond2019 E

MACF1

2-0225-004

chr1:
39634473-39634473

G

A

intronic

De novo

-

Yuen2017 G

MACF1

PN400127

chr1:
39812757-39812757

C

T

intronic

Unknown

47.0

-

Leblond2019 E

MACF1

F5980-1

chr1:
39826589-39826589

T

C

exonic

De novo

synonymous SNV

NM_012090

c.T6183C

p.I2061I

3.27

-

Fu2022 E
Satterstrom2020 E

MACF1

SP0107946

chr1:
39889627-39889627

G

GT

intronic

De novo

-

Fu2022 E

MACF1

SP0148140

chr1:
39823030-39823030

G

C

intronic

De novo

-

Fu2022 E

MACF1

PN400441

chr1:
39903464-39903464

G

A

exonic

Unknown

nonsynonymous SNV

NM_012090

c.G11827A

p.E3943K

35.0

5.0E-4

Leblond2019 E

MACF1

SP0033688

chr1:
39900290-39900290

C

A

exonic

De novo

nonsynonymous SNV

NM_012090

c.C11584A

p.Q3862K

33.0

-

Fu2022 E

MACF1

2-0299-005

chr1:
39719293-39719293

C

G

intronic

De novo

-

Yuen2017 G

MACF1

AU054303

chr1:
39947216-39947216

A

G

intronic

De novo

-

Yuen2017 G

MACF1

SP0098450

chr1:
39845949-39845949

A

G

exonic

De novo

nonsynonymous SNV

NM_012090

c.A7366G

p.K2456E

20.8

1.656E-5

Fu2022 E

MACF1

PN400283

chr1:
39903464-39903464

G

A

exonic

Unknown

nonsynonymous SNV

NM_012090

c.G11827A

p.E3943K

35.0

5.0E-4

Leblond2019 E

MACF1

AU4394302

chr1:
39780126-39780140

TACACACACACACAC

TACACACACAC

intronic

De novo

-

Yuen2017 G

MACF1

19-984080-19

chr1:
39796883-39796883

A

G

intronic

De novo

-

Satterstrom2020 E

MACF1

PN400584

chr1:
39903464-39903464

G

A

exonic

Unknown

nonsynonymous SNV

NM_012090

c.G11827A

p.E3943K

35.0

5.0E-4

Leblond2019 E

MACF1

PN400241

chr1:
39812757-39812757

C

T

intronic

Unknown

47.0

-

Leblond2019 E

MACF1

AU3859301

chr1:
39591733-39591733

C

T

intronic

De novo

-

Yuen2017 G

MACF1

PN400576

chr1:
39903464-39903464

G

A

exonic

Unknown, Inherited

nonsynonymous SNV

NM_012090

c.G11827A

p.E3943K

35.0

5.0E-4

Leblond2019 E
Leblond2019 E

MACF1

SP0042217

chr1:
39789949-39789949

C

T

exonic

Mosaic

stopgain

NM_012090

c.C4336T

p.Q1446X

24.5

-

Feliciano2019 E

MACF1

AU3859301

chr1:
39598224-39598224

G

C

intronic

De novo

-

Yuen2017 G

MACF1

More2023:3

chr1:
39853641-39853641

G

T

exonic

Inherited

nonsynonymous SNV

NM_012090

c.G8941T

p.A2981S

23.6

0.0062

More2023 G

MACF1

1-0196-005

chr1:
39720024-39720024

C

T

exonic

De novo

synonymous SNV

NM_012090

c.C427T

p.L143L

-

Yuen2017 G

MACF1

AU4159301

chr1:
39858419-39858419

T

A

intronic

De novo

-

Yuen2017 G

MACF1

More2023:10

chr1:
39763365-39763365

G

T

exonic

Inherited

nonsynonymous SNV

NM_012090

c.G2444T

p.C815F

32.0

0.0051

More2023 G

MACF1

2-1272-003

chr1:
39904691-39904691

G

T

intronic

De novo

-

Yuen2016 G

MACF1

14196.p1

chr1:
39838232-39838232

A

G

exonic

De novo

nonsynonymous SNV

NM_012090

c.A6991G

p.M2331V

8.865

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

MACF1

13502.p1

chr1:
39784265-39784265

C

T

exonic

Mosaic

nonsynonymous SNV

NM_012090

c.C3938T

p.S1313L

23.4

1.0E-4

Krupp2017 E

MACF1

111304

chr1:
39900258-39900258

C

T

exonic

nonsynonymous SNV

NM_012090

c.C11552T

p.P3851L

33.0

1.648E-5

Woodbury-Smith2022 E

MACF1

12521.p1

chr1:
39903616-39903616

G

A

exonic

Mosaic

synonymous SNV

NM_012090

c.G11979A

p.L3993L

5.037

-

Krupp2017 E

MACF1

AU030703

chr1:
39910108-39910108

A

G

intronic

De novo

-

Yuen2017 G

MACF1

1-0336-003

chr1:
39713079-39713079

A

G

intronic

De novo

-

Yuen2017 G

MACF1

12011.p1

chr1:
39601832-39601832

G

A

intronic

De novo

-

Turner2016 G

MACF1

A202403

chr1:
39696859-39696859

C

T

exonic

De novo

nonsynonymous SNV

NM_012090

c.C226T

p.R76W

28.8

-

Fu2022 E

MACF1

JASD_Fam0138

chr1:
39917969-39917970

GT

G

exonic

De novo

frameshift deletion

NM_012090

c.14384delT

p.V4795fs

-

Takata2018 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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