Variant Results

or

Results for "ASAH2"

Variant Events: 11

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

ASAH2

SP0089892

chr10:
51992910-51992910

C

T

intronic

De novo

-

Fu2022 E

ASAH2

12097.p1

chr10:
52000279-52000279

C

T

intronic

12.17

2.0E-4

Zhou2022 GE

ASAH2

1-0777-003

chr10:
51978197-51978197

C

T

intronic

De novo

-

Trost2022 G

ASAH2

MSSNG00376-003

chr10:
52007215-52007215

G

A

intronic

De novo

-

Trost2022 G

ASAH2

SP0160594

chr10:
51972715-51972715

C

T

intronic

De novo

-

Trost2022 G

ASAH2

MSSNG00158-003

chr10:
51975418-51975418

T

C

intronic

De novo

-

Trost2022 G

ASAH2

1-0224-004

chr10:
52030727-52030727

G

A

intergenic

De novo

-

Yuen2017 G

ASAH2

11715.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001143974
NM_019893
NM_001143974
NM_019893

c.211dupC
c.211dupC
c.210dupC
c.210dupC

p.Q71fs
p.Q71fs
p.Q71fs
p.Q71fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

ASAH2

1-0978-003

chr10:
52024757-52024760

TAAA

TAA

intergenic

De novo

-

Yuen2017 G

ASAH2

5431

chr10:
52005130-52005130

T

TG

exonic

De novo

frameshift insertion

NM_001143974
NM_019893

c.211dupC
c.211dupC

p.Q71fs
p.Q71fs

-

Fu2022 E
Trost2022 G

ASAH2

mAGRE5104

chr10:
52005020-52005020

G

A

exonic

Maternal

stopgain

NM_001143974
NM_019893

c.C322T
c.C322T

p.R108X
p.R108X

37.0

9.06E-5

Cirnigliaro2023 G

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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