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Results for "ZAN"

Variant Events: 32

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
ZAN     SP0021534chr7:
100371202-100371202		CTintronicDe novo--Fu2022 E
ZAN     SP0064631chr7:
100365397-100365397		GAintronicDe novo--Fu2022 E
ZAN     13675.p1chr7:
100388642-100388642		TCexonicDe novounknown6.842-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ZAN     647-04-102022chr7:
100388522-100388522		GAintronicDe novo--Satterstrom2020 E
Trost2022 G
ZAN     REACH000120chr7:
100392785-100392785		GAintronicDe novo--Trost2022 G
ZAN     133339chr7:
100364233-100364233		GAexonicunknown25.1-Woodbury-Smith2022 E
ZAN     SP0081065chr7:
100360048-100360048		TCintronicDe novo--Trost2022 G
ZAN     1-0006-003chr7:
100381338-100381338		TGintronicDe novo--Trost2022 G
ZAN     SP0047475chr7:
100360047-100360047		TCintronicDe novo--Trost2022 G
ZAN     SP0067106chr7:
100360048-100360048		TCintronicDe novo--Trost2022 G
ZAN     SP0035313chr7:
100360047-100360047		TCintronicDe novo--Trost2022 G
ZAN     SP0041375chr7:
100360047-100360047		TCintronicDe novo--Trost2022 G
ZAN     5-5209-003chr7:
100371415-100371415		CTexonicDe novounknown-9.703E-6Trost2022 G
Zhou2022 GE
ZAN     Cukier2014:17122chr7:
100346094-100346094		GAsplicingUnknownsplicing13.240.0361Cukier2014 E
ZAN     iHART3017chr7:
100346026-100346028		CTGCexonicMaternalunknown-9.226E-5Ruzzo2019 G
ZAN     mAGRE3017chr7:
100346026-100346028		CTGCexonicMaternalunknown-9.226E-5Cirnigliaro2023 G
ZAN     iHART2909chr7:
100369644-100369644		GAsplicingPaternalsplicing16.171.0E-4Ruzzo2019 G
ZAN     ASDFI_1124chr7:
100391819-100391819		CAexonicDe novounknown--Lim2017 E
ZAN     iHART2670chr7:
100361511-100361528		CGGCTGGTCGACACTCATCexonicPaternalunknown--Ruzzo2019 G
ZAN     TRE_2045chr7:
100365609-100365609		TCexonicDe novounknown--Fu2022 E
ZAN     13675_p1chr7:
100388642-100388642		TCexonicDe novounknown6.842-Fu2022 E
ZAN     mAGRE2635chr7:
100390055-100390055		CTexonicMaternalunknown44.08.42E-6Cirnigliaro2023 G
ZAN     mAGRE2086chr7:
100382373-100382373		CTexonicPaternalunknown59.01.672E-5Cirnigliaro2023 G
ZAN     SP0038165chr7:
100356130-100356130		GTintronicDe novo--Fu2022 E
ZAN     AU2410302chr7:
100369644-100369644		GAsplicingPaternalsplicing16.171.0E-4Cirnigliaro2023 G
ZAN     iHART2086chr7:
100382373-100382373		CTexonicPaternalunknown59.01.672E-5Ruzzo2019 G
ZAN     AU2410301chr7:
100369644-100369644		GAsplicingPaternalsplicing16.171.0E-4Cirnigliaro2023 G
ZAN     iHART2908chr7:
100369644-100369644		GAsplicingPaternalsplicing16.171.0E-4Ruzzo2019 G
ZAN     AU1933301chr7:
100361511-100361528		CGGCTGGTCGACACTCATCexonicPaternalunknown--Cirnigliaro2023 G
ZAN     mAGRE2072chr7:
100348890-100348890		GTsplicingPaternalsplicing12.818.0E-4Cirnigliaro2023 G
ZAN     iHART2635chr7:
100390055-100390055		CTexonicMaternalunknown44.08.42E-6Ruzzo2019 G
ZAN     mAGRE1403chr7:
100348890-100348890		GTsplicingPaternalsplicing12.818.0E-4Cirnigliaro2023 G
Source Variant Information

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Source:

Paper alias:

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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
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