Variant Results

or

Results for "ZMYM1"

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

ZMYM1

2-0215-003

chr1:
35571815-35571816

GC

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZMYM1

iHART2630

chr1:
35579261-35579262

CT

C

exonic

Maternal

frameshift deletion

NM_001289089
NM_024772
NM_001289088
NM_001289090
NM_001289091

c.1774delT
c.1831delT
c.1831delT
c.1831delT
c.751delT

p.F592fs
p.F611fs
p.F611fs
p.F611fs
p.F251fs

-

Ruzzo2019 G

ZMYM1

iHART2633

chr1:
35579261-35579262

CT

C

exonic

Maternal

frameshift deletion

NM_001289089
NM_024772
NM_001289088
NM_001289090
NM_001289091

c.1774delT
c.1831delT
c.1831delT
c.1831delT
c.751delT

p.F592fs
p.F611fs
p.F611fs
p.F611fs
p.F251fs

-

Ruzzo2019 G

ZMYM1

SP0121978

chr1:
35578984-35578984

T

A

exonic

De novo

nonsynonymous SNV

NM_001289089
NM_024772
NM_001289088
NM_001289090
NM_001289091

c.T1496A
c.T1553A
c.T1553A
c.T1553A
c.T473A

p.M499K
p.M518K
p.M518K
p.M518K
p.M158K

11.02

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZMYM1

1030

chr1:
35579909-35579909

T

G

exonic

De novo

nonsynonymous SNV

NM_001289089
NM_024772
NM_001289088
NM_001289090
NM_001289091

c.T2421G
c.T2478G
c.T2478G
c.T2478G
c.T1398G

p.I807M
p.I826M
p.I826M
p.I826M
p.I466M

9.6

-

Trost2022 G
Zhou2022 GE

ZMYM1

MSSNG00342-003

chr1:
35532673-35532673

G

A

intronic

De novo

-

Trost2022 G

ZMYM1

MT_182.3

chr1:
35578882-35578882

G

T

exonic

De novo

nonsynonymous SNV

NM_001289089
NM_024772
NM_001289088
NM_001289090
NM_001289091

c.G1394T
c.G1451T
c.G1451T
c.G1451T
c.G371T

p.C465F
p.C484F
p.C484F
p.C484F
p.C124F

1.436

-

Trost2022 G
Zhou2022 GE

ZMYM1

2-1357-003

chr1:
35605085-35605085

G

A

intergenic

De novo

-

Yuen2017 G

ZMYM1

5-0025-003

chr1:
35538712-35538712

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZMYM1

1-0986-003

chr1:
35587485-35587485

T

G

intergenic

De novo

-

Yuen2017 G

ZMYM1

AU2787302

chr1:
35603232-35603237

AAGAGA

AAGA

intergenic

De novo

-

Yuen2017 G

ZMYM1

mAGRE2633

chr1:
35579261-35579262

CT

C

exonic

Maternal

frameshift deletion

NM_001289089
NM_024772
NM_001289088
NM_001289090
NM_001289091

c.1774delT
c.1831delT
c.1831delT
c.1831delT
c.751delT

p.F592fs
p.F611fs
p.F611fs
p.F611fs
p.F251fs

-

Cirnigliaro2023 G

ZMYM1

REACH000228

chr1:
35559361-35559361

G

A

intronic

De novo

-

Trost2022 G

ZMYM1

mAGRE2630

chr1:
35579261-35579262

CT

C

exonic

Maternal

frameshift deletion

NM_001289089
NM_024772
NM_001289088
NM_001289090
NM_001289091

c.1774delT
c.1831delT
c.1831delT
c.1831delT
c.751delT

p.F592fs
p.F611fs
p.F611fs
p.F611fs
p.F251fs

-

Cirnigliaro2023 G

ZMYM1

2-1693-003

chr1:
35638762-35638762

T

G

intergenic

De novo

-

Yuen2017 G

ZMYM1

1-0282-003

chr1:
35627380-35627380

T

TTG

intergenic

De novo

-

Yuen2017 G

ZMYM1

2-0197-003

chr1:
35579344-35579344

A

G

exonic

De novo

nonsynonymous SNV

NM_001289089
NM_024772
NM_001289088
NM_001289090
NM_001289091

c.A1856G
c.A1913G
c.A1913G
c.A1913G
c.A833G

p.N619S
p.N638S
p.N638S
p.N638S
p.N278S

9.348

-

Yuen2015 G

ZMYM1

2-0223-004

chr1:
35546618-35546618

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 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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