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Results for "SON"

Variant Events: 8

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
SON     152839chr21:
34924446-34924447
ACAexonicDe novostopgainNM_001291411
NM_032195
NM_138927
c.2910delC
c.2910delC
c.2910delC
p.Y970X
p.Y970X
p.Y970X
--Satterstrom2020 E
SON     SP0025536chr21:
34926316-34926316
AGexonicDe novosynonymous SNVNM_001291411
NM_032195
NM_138927
c.A4779G
c.A4779G
c.A4779G
p.L1593L
p.L1593L
p.L1593L
0.004-Feliciano2019 E
SON     JASD_Fam0087chr21:
34945653-34945653
GAexonicDe novononsynonymous SNVNM_001291412
NM_138927
c.G1009A
c.G6925A
p.G337R
p.G2309R
25.3-Takata2018 E
SON     1-0330-003chr21:
34915730-34915730
CAintronicDe novo--Yuen2017 G
SON     iHART2988chr21:
34927052-34927052
CTexonicDe novononsynonymous SNVNM_001291411
NM_032195
NM_138927
c.C5515T
c.C5515T
c.C5515T
p.R1839C
p.R1839C
p.R1839C
13.25-Ruzzo2019 G
SON     A17chr21:
34933439-34933439
ACintronicDe novo--Wu2018 G
SON     1-0597-003chr21:
34920126-34920131
TTGTCCTintronicDe novo--Yuen2017 G
SON     12913.p1chr21:
34925261-34925261
TGexonicDe novononsynonymous SNVNM_001291411
NM_032195
NM_138927
c.T3724G
c.T3724G
c.T3724G
p.S1242A
p.S1242A
p.S1242A
12.55-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
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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