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Results for "ZWILCH"

Variant Events: 19

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
ZWILCH     iHART2367chr15:
66832550-66832550
TCsplicingMaternalsplicing13.892.493E-5Ruzzo2019 G
ZWILCH     SSC10431chr15:
66838947-66838947
TTGexonicDe novoframeshift insertionNM_001287822
NM_001287823
NM_001287821
NM_017975
c.1364_1365insG
c.1364_1365insG
c.1364_1365insG
c.1706_1707insG
p.L455fs
p.L455fs
p.L455fs
p.L569fs
--Trost2022 G
ZWILCH     12859.p1 Complex Event; expand row to view variants  De novo-8.259E-6Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
ZWILCH     REACH000258chr15:
66828691-66828691
CTintronicDe novo--Trost2022 G
ZWILCH     14175.p1 Complex Event; expand row to view variants  De novoframeshift insertion, stopgain, nonframeshift substitutionNM_001287822
NM_001287823
NM_001287821
NM_017975
NM_001287822
NM_001287823
NM_001287821
NM_017975
NM_001287822
NM_001287823
NM_001287821
NM_017975
NM_001287822
NM_001287823
NM_001287821
NM_017975
c.1364_1365insG
c.1364_1365insG
c.1364_1365insG
c.1706_1707insG
c.1365_1366insG
c.1365_1366insG
c.1365_1366insG
c.1707_1708insG
c.1364_1365insGTAATTCCTGTGTTAACACTG
c.1364_1365insGTAATTCCTGTGTTAACACTG
c.1364_1365insGTAATTCCTGTGTTAACACTG
c.1706_1707insGTAATTCCTGTGTTAACACTG
c.1365_1365delinsGTAATTCCTGTGTTAACACTGT
c.1365_1365delinsGTAATTCCTGTGTTAACACTGT
c.1365_1365delinsGTAATTCCTGTGTTAACACTGT
c.1707_1707delinsGTAATTCCTGTGTTAACACTGT
p.L455fs
p.L455fs
p.L455fs
p.L569fs
p.L455fs
p.L455fs
p.L455fs
p.L569fs
p.L455delinsLX
p.L455delinsLX
p.L455delinsLX
p.L569delinsLX
N/A
N/A
N/A
N/A
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
ZWILCH     1031chr15:
66834604-66834604
CTintronicDe novo--Trost2022 G
ZWILCH     iHART2366chr15:
66832550-66832550
TCsplicingMaternalsplicing13.892.493E-5Ruzzo2019 G
ZWILCH     SSC06092chr15:
66813380-66813382
CTTCintronicDe novo-8.259E-6Trost2022 G
ZWILCH     iHART3051chr15:
66820193-66820193
AGsplicingMaternalsplicing17.94-Ruzzo2019 G
ZWILCH     MSSNG00354-004chr15:
66827011-66827011
GAintronicDe novo--Trost2022 G
ZWILCH     AU3051303chr15:
66820193-66820193
AGsplicingMaternalsplicing17.94-Cirnigliaro2023 G
ZWILCH     1-0551-003chr15:
66809135-66809135
CTintronicDe novo--Yuen2017 G
ZWILCH     2-0070-003chr15:
66821214-66821214
GGCexonicDe novoframeshift insertionNM_001287822
NM_001287823
NM_001287821
NM_017975
c.652_653insC
c.652_653insC
c.652_653insC
c.994_995insC
p.V218fs
p.V218fs
p.V218fs
p.V332fs
--Yuen2015 G
ZWILCH     mAGRE2367chr15:
66832550-66832550
TCsplicingMaternalsplicing13.892.493E-5Cirnigliaro2023 G
ZWILCH     7-0100-003chr15:
66803818-66803818
GAintronicDe novo--Trost2022 G
Yuen2017 G
ZWILCH     mAGRE2366chr15:
66832550-66832550
TCsplicingMaternalsplicing13.892.493E-5Cirnigliaro2023 G
ZWILCH     1034chr15:
66802751-66802751
GAintronicDe novo--Trost2022 G
ZWILCH     5-5024-003chr15:
66809696-66809696
AGintronicDe novo--Trost2022 G
ZWILCH     SP0130223chr15:
66832473-66832473
GAexonicDe novononsynonymous SNVNM_001287822
NM_001287823
NM_001287821
NM_017975
c.G1270A
c.G1270A
c.G1270A
c.G1612A
p.G424S
p.G424S
p.G424S
p.G538S
11.333.296E-5Fu2022 E
Trost2022 G
Zhou2022 GE
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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