Variant Results

or

or

Results for "EXOSC10"

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

EXOSC10

4G659

chr1:
11134308-11134308

A

C

exonic

De novo

nonsynonymous SNV

NM_001001998
NM_002685

c.T2062G
c.T2062G

p.F688V
p.F688V

17.57

-

Fu2022 E

EXOSC10

SP0077302

chr1:
11160049-11160049

C

T

upstream

De novo

-

-

Fu2022 E

EXOSC10

1-0820-003

chr1:
11126725-11126725

G

A

UTR3

De novo

-

-

Yuen2017 G

EXOSC10

1-0756-005

chr1:
11149674-11149674

G

A

intronic

De novo

-

-

Yuen2017 G

EXOSC10

Marques2022:6

chr1:
11147924-11147924

G

A

exonic

nonsynonymous SNV

NM_001001998
NM_002685

c.C878T
c.C878T

p.S293F
p.S293F

17.58

Marques2022 ET

EXOSC10

Marques2022:5

chr1:
11147872-11147872

A

C

exonic

nonsynonymous SNV

NM_001001998
NM_002685

c.T930G
c.T930G

p.F310L
p.F310L

15.12

-

Marques2022 ET

EXOSC10

Marques2022:8

chr1:
11155907-11155907

G

A

exonic

nonsynonymous SNV

NM_001001998
NM_002685

c.C280T
c.C280T

p.R94C
p.R94C

22.7

Marques2022 ET

EXOSC10

Marques2022:7

chr1:
11147945-11147945

G

A

exonic

nonsynonymous SNV

NM_001001998
NM_002685

c.C857T
c.C857T

p.T286I
p.T286I

17.83

-

Marques2022 ET

EXOSC10

Marques2022:2

chr1:
11140876-11140877

GA

G

exonic

frameshift deletion

NM_001001998
NM_002685

c.1530delT
c.1530delT

p.F510fs
p.F510fs

-

-

Marques2022 ET

EXOSC10

Marques2022:1

chr1:
11140608-11140608

T

C

splicing

splicing

14.92

Marques2022 ET

EXOSC10

Marques2022:4

chr1:
11147637-11147637

G

T

exonic

stopgain

NM_001001998
NM_002685

c.C957A
c.C957A

p.Y319X
p.Y319X

36.0

-

Marques2022 ET

EXOSC10

Marques2022:3

chr1:
11141171-11141171

C

T

exonic

nonsynonymous SNV

NM_001001998
NM_002685

c.G1405A
c.G1405A

p.V469M
p.V469M

35.0

-

Marques2022 ET

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
	More