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Results for "IL17RC"

Variant Events: 5

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
IL17RC     iHART2473chr3:
9962230-9962230
GAexonicMaternalstopgainNM_001203263
NM_001203264
NM_001203265
NM_032732
NM_153460
NM_153461
c.G521A
c.G521A
c.G521A
c.G521A
c.G521A
c.G734A
p.W174X
p.W174X
p.W174X
p.W174X
p.W174X
p.W245X
32.02.591E-5Ruzzo2019 G
IL17RC     09C85432chr3:
9974553-9974553
GCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
IL17RC     iHART2086chr3:
9970030-9970030
CTexonicPaternalstopgainNM_001203265
NM_032732
NM_001203263
NM_001203264
NM_153460
NM_153461
c.C874T
c.C874T
c.C919T
c.C919T
c.C919T
c.C1132T
p.Q292X
p.Q292X
p.Q307X
p.Q307X
p.Q307X
p.Q378X
16.76.0E-4Ruzzo2019 G
IL17RC     11578.p1chr3:
9971538-9971538
GAexonicMosaicsynonymous SNVNM_001203265
NM_001203264
NM_032732
NM_001203263
NM_153460
NM_153461
c.G1017A
c.G1062A
c.G1068A
c.G1113A
c.G1113A
c.G1326A
p.V339V
p.V354V
p.V356V
p.V371V
p.V371V
p.V442V
--Dou2017 E
IL17RC     iHART2472chr3:
9962230-9962230
GAexonicMaternalstopgainNM_001203263
NM_001203264
NM_001203265
NM_032732
NM_153460
NM_153461
c.G521A
c.G521A
c.G521A
c.G521A
c.G521A
c.G734A
p.W174X
p.W174X
p.W174X
p.W174X
p.W174X
p.W245X
32.02.591E-5Ruzzo2019 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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