Variant Results

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Results for "SON"

Variant Events: 14

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

SP0025536

chr21:
34926316-34926316

A

G

exonic

De novo

synonymous SNV

NM_001291411
NM_032195
NM_138927

c.A4779G
c.A4779G
c.A4779G

p.L1593L
p.L1593L
p.L1593L

0.004

-

Feliciano2019 E
Fu2022 E

SON

More2023:19

chr21:
34923617-34923617

A

G

exonic

Inherited

nonsynonymous SNV

NM_001291411
NM_032195
NM_138927

c.A2080G
c.A2080G
c.A2080G

p.T694A
p.T694A
p.T694A

13.15

More2023 G

SON

JASD_Fam0087

chr21:
34945653-34945653

G

A

exonic

De novo

nonsynonymous SNV

NM_001291412
NM_138927

c.G1009A
c.G6925A

p.G337R
p.G2309R

25.3

-

Takata2018 E

SON

SP0065860

chr21:
34927287-34927291

CAGTT

C

exonic

De novo

frameshift deletion

NM_001291411
NM_032195
NM_138927

c.5751_5754del
c.5751_5754del
c.5751_5754del

p.T1917fs
p.T1917fs
p.T1917fs

-

-

Antaki2022 GE
Fu2022 E

SON

TRE_2428

chr21:
34927537-34927537

A

G

exonic

De novo

synonymous SNV

NM_001291411
NM_032195
NM_138927

c.A6000G
c.A6000G
c.A6000G

p.R2000R
p.R2000R
p.R2000R

5.836

-

Fu2022 E

SON

12913_p1

chr21:
34925261-34925261

T

G

exonic

De novo

nonsynonymous SNV

NM_001291411
NM_032195
NM_138927

c.T3724G
c.T3724G
c.T3724G

p.S1242A
p.S1242A
p.S1242A

12.55

-

Fu2022 E

SON

12913.p1

chr21:
34925261-34925261

T

G

exonic

De novo

nonsynonymous SNV

NM_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

SON

152839

chr21:
34924446-34924447

AC

A

exonic

De novo

stopgain

NM_001291411
NM_032195
NM_138927

c.2910delC
c.2910delC
c.2910delC

p.Y970X
p.Y970X
p.Y970X

-

-

Fu2022 E
Satterstrom2020 E

SON

SP0047593

chr21:
34923588-34923588

A

G

exonic

De novo

nonsynonymous SNV

NM_001291411
NM_032195
NM_138927

c.A2051G
c.A2051G
c.A2051G

p.Y684C
p.Y684C
p.Y684C

15.27

-

Fu2022 E

SON

1-0330-003

chr21:
34915730-34915730

C

A

intronic

De novo

-

-

Yuen2017 G

SON

iHART2988

chr21:
34927052-34927052

C

T

exonic

De novo

nonsynonymous SNV

NM_001291411
NM_032195
NM_138927

c.C5515T
c.C5515T
c.C5515T

p.R1839C
p.R1839C
p.R1839C

13.25

-

Ruzzo2019 G

SON

A17

chr21:
34933439-34933439

A

C

intronic

De novo

-

-

Wu2018 G

SON

1-0597-003

chr21:
34920126-34920131

TTGTCC

T

intronic

De novo

-

-

Yuen2017 G

SON

SP0057931

chr21:
34924728-34924728

G

A

exonic

De novo

nonsynonymous SNV

NM_001291411
NM_032195
NM_138927

c.G3191A
c.G3191A
c.G3191A

p.R1064H
p.R1064H
p.R1064H

17.99

-

Fu2022 E

Source Variant Information

, -

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 notes	View
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