or
or
Exact

Results for "ZMYM1"

Variant Events: 11

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     2-0215-003chr1:
35571815-35571816
GCGintronicDe novo--Yuen2017 G
ZMYM1     1-0986-003chr1:
35587485-35587485
TGintergenicDe novo--Yuen2017 G
ZMYM1     AU2787302chr1:
35603232-35603237
AAGAGAAAGAintergenicDe novo--Yuen2017 G
ZMYM1     iHART2630chr1:
35579261-35579262
CTCexonicMaternalframeshift deletionNM_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     2-1693-003chr1:
35638762-35638762
TGintergenicDe novo--Yuen2017 G
ZMYM1     iHART2633chr1:
35579261-35579262
CTCexonicMaternalframeshift deletionNM_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     1-0282-003chr1:
35627380-35627380
TTTGintergenicDe novo--Yuen2017 G
ZMYM1     2-1357-003chr1:
35605085-35605085
GAintergenicDe novo--Yuen2017 G
ZMYM1     2-0197-003chr1:
35579344-35579344
AGexonicDe novononsynonymous SNVNM_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     5-0025-003chr1:
35538712-35538712
TGintronicDe novo--Yuen2017 G
ZMYM1     2-0223-004chr1:
35546618-35546618
CGintronicDe novo--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 notesView
More