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Results for "ZMYND8"

Variant Events: 14

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
ZMYND8     2-0033-003chr20:
46075450-46075450
CTintergenicDe novo--Yuen2017 G
ZMYND8     AU073005chr20:
45875250-45875250
TCexonicDe novononsynonymous SNVNM_001281781
NM_001281784
NM_001281771
NM_001281775
NM_001281776
NM_001281777
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183047
NM_183048
NM_001281773
NM_001281774
NM_001281779
NM_001281780
NM_001281772
c.A1570G
c.A1570G
c.A1711G
c.A1786G
c.A1786G
c.A1711G
c.A1711G
c.A1711G
c.A1786G
c.A1786G
c.A1786G
c.A1711G
c.A1726G
c.A1726G
c.A982G
c.A982G
c.A1726G
p.I524V
p.I524V
p.I571V
p.I596V
p.I596V
p.I571V
p.I571V
p.I571V
p.I596V
p.I596V
p.I596V
p.I571V
p.I576V
p.I576V
p.I328V
p.I328V
p.I576V
22.4-Yuen2017 G
ZMYND8     12493.p1chr20:
45996532-45996532
AGintergenicDe novo--Turner2016 G
ZMYND8     12493.p1chr20:
45996544-45996544
CTintergenicDe novo--Turner2016 G
ZMYND8     7-0080-003chr20:
46017426-46017426
CAintergenicDe novo--Yuen2017 G
ZMYND8     2-1406-003chr20:
45847925-45847931
TCTCAAATintronicDe novo--Yuen2016 G
ZMYND8     AU2495302chr20:
46018815-46018815
GAintergenicDe novo--Yuen2017 G
ZMYND8     11472.p1chr20:
45875004-45875004
CTexonicDe novononsynonymous SNVNM_001281781
NM_001281784
NM_001281771
NM_001281775
NM_001281776
NM_001281777
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183047
NM_183048
NM_001281773
NM_001281774
NM_001281779
NM_001281780
NM_001281772
c.G1816A
c.G1816A
c.G1957A
c.G2032A
c.G2032A
c.G1957A
c.G1957A
c.G1957A
c.G2032A
c.G2032A
c.G2032A
c.G1957A
c.G1972A
c.G1972A
c.G1228A
c.G1228A
c.G1972A
p.A606T
p.A606T
p.A653T
p.A678T
p.A678T
p.A653T
p.A653T
p.A653T
p.A678T
p.A678T
p.A678T
p.A653T
p.A658T
p.A658T
p.A410T
p.A410T
p.A658T
3.722-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
ZMYND8     Mahjani2021:94chr20:
45839489-45839490
ATAexonicframeshift deletionNM_001281771
NM_001281781
NM_001281784
NM_001281776
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183048
NM_001281775
NM_001281777
NM_001281780
NM_183047
NM_001281772
NM_001281773
NM_001281774
NM_001281779
c.3081delA
c.3183delA
c.3321delA
c.3240delA
c.3462delA
c.3327delA
c.3537delA
c.3399delA
c.3324delA
c.3621delA
c.3408delA
c.2595delA
c.3483delA
c.3477delA
c.3561delA
c.3423delA
c.2679delA
p.G1027fs
p.G1061fs
p.G1107fs
p.G1080fs
p.G1154fs
p.G1109fs
p.G1179fs
p.G1133fs
p.G1108fs
p.G1207fs
p.G1136fs
p.G865fs
p.G1161fs
p.G1159fs
p.G1187fs
p.G1141fs
p.G893fs
--Mahjani2021 E
ZMYND8     5-0004-003chr20:
46080064-46080064
AGintergenicDe novo--Yuen2017 G
ZMYND8     08C76266chr20:
45875071-45875071
CCTexonicDe novoframeshift insertionNM_001281781
NM_001281784
NM_001281771
NM_001281775
NM_001281776
NM_001281777
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183047
NM_183048
NM_001281773
NM_001281774
NM_001281779
NM_001281780
NM_001281772
c.1748dupA
c.1748dupA
c.1889dupA
c.1964dupA
c.1964dupA
c.1889dupA
c.1889dupA
c.1889dupA
c.1964dupA
c.1964dupA
c.1964dupA
c.1889dupA
c.1904dupA
c.1904dupA
c.1160dupA
c.1160dupA
c.1904dupA
p.K583fs
p.K583fs
p.K630fs
p.K655fs
p.K655fs
p.K630fs
p.K630fs
p.K630fs
p.K655fs
p.K655fs
p.K655fs
p.K630fs
p.K635fs
p.K635fs
p.K387fs
p.K387fs
p.K635fs
-8.237E-6Satterstrom2020 E
ZMYND8     80001100861chr20:
45839489-45839490
ATAexonicDe novoframeshift deletionNM_001281771
NM_001281781
NM_001281784
NM_001281776
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183048
NM_001281775
NM_001281777
NM_001281780
NM_183047
NM_001281772
NM_001281773
NM_001281774
NM_001281779
c.3081delA
c.3183delA
c.3321delA
c.3240delA
c.3462delA
c.3327delA
c.3537delA
c.3399delA
c.3324delA
c.3621delA
c.3408delA
c.2595delA
c.3483delA
c.3477delA
c.3561delA
c.3423delA
c.2679delA
p.G1027fs
p.G1061fs
p.G1107fs
p.G1080fs
p.G1154fs
p.G1109fs
p.G1179fs
p.G1133fs
p.G1108fs
p.G1207fs
p.G1136fs
p.G865fs
p.G1161fs
p.G1159fs
p.G1187fs
p.G1141fs
p.G893fs
--Satterstrom2020 E
ZMYND8     1-0107-003chr20:
46035355-46035355
ATintergenicDe novo--Yuen2016 G
ZMYND8     AU4379301chr20:
45979375-45979375
ACintronicDe novo--Yuen2017 G
Source Variant Information

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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
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