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Results for "WAPL"

Variant Events: 25

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
WAPL     1-0065-004chr10:
88219732-88219732
AGintronicDe novo--Yuen2017 G
WAPL     SP0065549chr10:
88227040-88227040
AGexonicDe novononsynonymous SNVNM_015045c.T2366Cp.I789T22.9-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
WAPL     1-0494-003Achr10:
88258579-88258579
TTAintronicDe novo--Trost2022 G
Yuen2017 G
WAPL     2-0272-003chr10:
88360368-88360368
GTintergenicDe novo--Yuen2017 G
WAPL     1-0465-003chr10:
88382341-88382341
AAGGCTintergenicDe novo--Yuen2017 G
WAPL     iHART3132chr10:
88260502-88260502
TCsplicingPaternalsplicing8.8491.994E-5Ruzzo2019 G
WAPL     1-0497-003chr10:
88351408-88351408
TAintergenicDe novo--Yuen2017 G
WAPL     1-0126-003chr10:
88264219-88264219
GAintronicDe novo--Yuen2017 G
WAPL     5-5203-003chr10:
88279226-88279226
CCTintronicDe novo--Trost2022 G
WAPL     1-0182-003chr10:
88226754-88226754
GAintronicDe novo--Trost2022 G
WAPL     REACH000627chr10:
88244068-88244068
CGintronicDe novo--Trost2022 G
WAPL     MSSNG00171-003chr10:
88216682-88216682
CTintronicDe novo--Trost2022 G
WAPL     2-1089-004chr10:
88264403-88264403
ATintronicDe novo--Yuen2017 G
WAPL     MSSNG00005-003chr10:
88219732-88219732
AGintronicDe novo--Trost2022 G
WAPL     1-0375-003chr10:
88373255-88373255
GAintergenicDe novo--Yuen2017 G
WAPL     1-0494-003chr10:
88258579-88258579
TTAintronicDe novo--Yuen2017 G
WAPL     1-0465-003achr10:
88382341-88382341
AAGGCTintergenicDe novo--Yuen2017 G
WAPL     1-0052-004chr10:
88264198-88264198
CCCGintronicDe novo--Yuen2017 G
WAPL     1-0304-003chr10:
88371599-88371599
GAintergenicDe novo--Yuen2017 G
WAPL     1-0246-005chr10:
88216135-88216135
GAintronicDe novo--Trost2022 G
Yuen2017 G
WAPL     SP0016433chr10:
88259666-88259666
CGexonicDe novononsynonymous SNVNM_015045c.G1334Cp.S445T14.52-Fu2022 E
Trost2022 G
Zhou2022 GE
WAPL     2-1429-004chr10:
88264241-88264241
AGintronicDe novo--Yuen2017 G
WAPL     SP0108176chr10:
88233699-88233699
TCexonicDe novononsynonymous SNVNM_015045c.A1676Gp.H559R23.7-Fu2022 E
Trost2022 G
Zhou2022 GE
WAPL     AU4239301chr10:
88364838-88364838
CTintergenicDe novo--Yuen2017 G
WAPL     AU3646301chr10:
88260502-88260502
TCsplicingPaternalsplicing8.8491.994E-5Cirnigliaro2023 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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