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Results for "SNRK"

Variant Events: 12

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
SNRK     1-0325-003chr3:
43365150-43365150
CTintronicDe novo--Yuen2017 G
SNRK     2-1438-003chr3:
43352700-43352700
GAintronicDe novo--Yuen2016 G
Yuen2017 G
SNRK     2-1619-003chr3:
43377638-43377638
GCintronicDe novo--Yuen2017 G
SNRK     AU2109301chr3:
43360498-43360498
CTintronicDe novo--Yuen2017 G
SNRK     5-0109-003chr3:
43383248-43383248
TCintronicDe novo--Yuen2017 G
SNRK     1-0119-004chr3:
43377471-43377471
GAintronicDe novo--Yuen2017 G
SNRK     AU3761302chr3:
43344575-43344580
CTTCTTCintronicDe novo--Yuen2017 G
SNRK     iHART2300chr3:
43389806-43389806
GAexonicMaternalstopgainNM_001100594
NM_017719
c.G2055A
c.G2055A
p.W685X
p.W685X
38.0-Ruzzo2019 G
SNRK     2-1440-003chr3:
43344298-43344298
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SNRK     3-0437-000chr3:
43347122-43347122
CTintronicDe novo--Yuen2016 G
SNRK     iHART2298chr3:
43389806-43389806
GAexonicMaternalstopgainNM_001100594
NM_017719
c.G2055A
c.G2055A
p.W685X
p.W685X
38.0-Ruzzo2019 G
SNRK     11411.p1chr3:
43389739-43389739
AGexonicDe novononsynonymous SNVNM_001100594
NM_017719
c.A1988G
c.A1988G
p.K663R
p.K663R
2.971-Iossifov2014 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 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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