Variant Results

or

Results for "ANKMY1"

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

ANKMY1

2-0299-005

chr2:
241467272-241467272

T

A

intronic

De novo

-

Yuen2017 G

ANKMY1

SP0041461

chr2:
241465186-241465186

C

T

exonic

De novo

synonymous SNV

NM_001282780
NM_001282781
NM_001308375
NM_017844
NM_016552
NM_001282771

c.G561A
c.G561A
c.G798A
c.G561A
c.G984A
c.G1251A

p.T187T
p.T187T
p.T266T
p.T187T
p.T328T
p.T417T

-

4.126E-5

Fu2022 E

ANKMY1

SP0141122

chr2:
241459785-241459785

C

T

exonic

De novo

synonymous SNV

NM_001282780
NM_001308375
NM_017844
NM_001282781
NM_016552
NM_001282771

c.G1308A
c.G1545A
c.G1308A
c.G1014A
c.G1731A
c.G1998A

p.P436P
p.P515P
p.P436P
p.P338P
p.P577P
p.P666P

6.032

-

Fu2022 E

ANKMY1

2-1735-003

chr2:
241500280-241500280

C

A

exonic

De novo

nonsynonymous SNV

NM_001033575
NM_001308375

c.C179A
c.G88T

p.A60E
p.A30S

11.33

-

Yuen2017 G

ANKMY1

SP0068516

chr2:
241492298-241492298

C

T

intronic

De novo

-

8.243E-6

Fu2022 E

ANKMY1

SP0026161

chr2:
241451202-241451202

C

T

intronic

De novo

-

Fu2022 E

ANKMY1

1-0673-003

chr2:
241495303-241495303

T

C

intronic

De novo

-

Yuen2017 G

ANKMY1

286-05-103511

chr2:
241463656-241463656

C

T

exonic

De novo

nonsynonymous SNV

NM_001282780
NM_001308375
NM_017844
NM_016552
NM_001282771

c.G788A
c.G1025A
c.G788A
c.G1211A
c.G1478A

p.R263H
p.R342H
p.R263H
p.R404H
p.R493H

0.881

7.452E-5

Fu2022 E
Satterstrom2020 E

ANKMY1

PN400149

chr2:
241463346-241463346

G

A

exonic

De novo

synonymous SNV

NM_001282780
NM_001308375
NM_017844
NM_001282781
NM_016552
NM_001282771

c.C1098T
c.C1335T
c.C1098T
c.C804T
c.C1521T
c.C1788T

p.S366S
p.S445S
p.S366S
p.S268S
p.S507S
p.S596S

-

8.304E-6

Leblond2019 E

ANKMY1

1-0508-003

chr2:
241487642-241487642

A

C

intronic

De novo

-

Yuen2017 G

ANKMY1

AU3866301

chr2:
241492375-241492375

G

A

exonic

De novo

stopgain

NM_016552
NM_001282771
NM_001282780
NM_001282781
NM_001308375
NM_017844

c.C169T
c.C436T
c.C436T
c.C436T
c.C673T
c.C436T

p.R57X
p.R146X
p.R146X
p.R146X
p.R225X
p.R146X

11.06

1.649E-5

Yuen2017 G

ANKMY1

iHART1717

chr2:
241451277-241451277

C

T

splicing

Paternal

splicing

9.369

-

Ruzzo2019 G

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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