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Results for "KIDINS220"

Variant Events: 13

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
KIDINS220     AU3635301chr2:
8903809-8903809
TCintronicDe novo--Yuen2017 G
KIDINS220     1-0458-004chr2:
8903159-8903163
TTCTATintronicDe novo--Yuen2017 G
KIDINS220     AU063005chr2:
8976010-8976010
GAintronicDe novo--Yuen2017 G
KIDINS220     2-1251-003chr2:
8946309-8946309
AGintronicDe novo--Yuen2017 G
KIDINS220     PN400540chr2:
8957755-8957755
CTexonicUnknownnonsynonymous SNVNM_020738c.G299Ap.R100H23.48.296E-5Leblond2019 E
KIDINS220     111310chr2:
8871659-8871659
AGexonicnonsynonymous SNVNM_020738c.T4507Cp.F1503L21.24.97E-5Woodbury-Smith2022 E
KIDINS220     Chen2017:61chr2:
8871599-8871599
CTexonicDe novononsynonymous SNVNM_020738c.G4567Ap.E1523K21.1-Chen2017 E
KIDINS220     200675499@1082035007chr2:
8871599-8871599
CTexonicDe novononsynonymous SNVNM_020738c.G4567Ap.E1523K21.1-Satterstrom2020 E
KIDINS220     PN400538chr2:
8957755-8957755
CTexonicUnknownnonsynonymous SNVNM_020738c.G299Ap.R100H23.48.296E-5Leblond2019 E
KIDINS220     AU006804chr2:
8986095-8986095
GCintergenicDe novo--Yuen2017 G
KIDINS220     AU3451301chr2:
8958965-8958965
CTintronicDe novo--Yuen2017 G
KIDINS220     AU4122301chr2:
8935296-8935296
TCintronicDe novo--Yuen2017 G
KIDINS220     1-0495-003chr2:
8873641-8873641
CGexonicDe novononsynonymous SNVNM_020738c.G3986Cp.S1329T23.4-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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