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Results for "SON"

Variant Events: 18

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     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
Fu2022 E
Trost2022 G
Zhou2022 GE
SON     More2023:19chr21:
34923617-34923617
AGexonicInheritednonsynonymous SNVNM_001291411
NM_032195
NM_138927
c.A2080G
c.A2080G
c.A2080G
p.T694A
p.T694A
p.T694A
13.150.0038More2023 G
SON     JASD_Fam0087chr21:
34945653-34945653
GAexonicDe novononsynonymous SNVNM_001291412
NM_138927
c.G1009A
c.G6925A
p.G337R
p.G2309R
25.3-Takata2018 E
SON     SP0065860chr21:
34927287-34927291
CAGTTCexonicDe novoframeshift deletionNM_001291411
NM_032195
NM_138927
c.5751_5754del
c.5751_5754del
c.5751_5754del
p.T1917fs
p.T1917fs
p.T1917fs
--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SON     SP0175200chr21:
34922544-34922544
CTexonicDe novononsynonymous SNVNM_001291411
NM_032195
NM_138927
c.C1007T
c.C1007T
c.C1007T
p.A336V
p.A336V
p.A336V
7.4796.0E-4Trost2022 G
SON     TRE_2428chr21:
34927537-34927537
AGexonicDe novosynonymous SNVNM_001291411
NM_032195
NM_138927
c.A6000G
c.A6000G
c.A6000G
p.R2000R
p.R2000R
p.R2000R
5.836-Fu2022 E
SON     REACH000602chr21:
34922720-34922720
CTexonicDe novostopgainNM_001291411
NM_032195
NM_138927
c.C1183T
c.C1183T
c.C1183T
p.Q395X
p.Q395X
p.Q395X
29.2-Trost2022 G
Zhou2022 GE
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-Fu2022 E
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
Trost2022 G
Zhou2022 GE
SON     mAGRE2988chr21:
34927052-34927052
CTexonicDe novononsynonymous SNVNM_001291411
NM_032195
NM_138927
c.C5515T
c.C5515T
c.C5515T
p.R1839C
p.R1839C
p.R1839C
13.25-Cirnigliaro2023 G
SON     152839chr21:
34924446-34924447
ACAexonicDe novostopgainNM_001291411
NM_032195
NM_138927
c.2910delC
c.2910delC
c.2910delC
p.Y970X
p.Y970X
p.Y970X
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SON     SP0047593chr21:
34923588-34923588
AGexonicDe novononsynonymous SNVNM_001291411
NM_032195
NM_138927
c.A2051G
c.A2051G
c.A2051G
p.Y684C
p.Y684C
p.Y684C
15.27-Fu2022 E
Trost2022 G
Zhou2022 GE
SON     1-0330-003chr21:
34915730-34915730
CAintronicDe novo--Trost2022 G
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--Trost2022 G
Yuen2017 G
SON     SP0057931chr21:
34924728-34924728
GAexonicDe novononsynonymous SNVNM_001291411
NM_032195
NM_138927
c.G3191A
c.G3191A
c.G3191A
p.R1064H
p.R1064H
p.R1064H
17.99-Fu2022 E
Trost2022 G
Zhou2022 GE
SON     Miyake2023:9284chr21:
34945653-34945653
GAexonicDe novononsynonymous SNVNM_001291412
NM_138927
c.G1009A
c.G6925A
p.G337R
p.G2309R
25.3-Miyake2023 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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