Variant Results

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Results for "ASPG"

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

ASPG

SP0127690

chr14:
104570770-104570770

A

G

exonic

De novo

nonsynonymous SNV

NM_001080464

c.A883G

p.N295D

13.99

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ASPG

7-0058-003

chr14:
104567453-104567453

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ASPG

12536.p1

chr14:
104578960-104578960

G

T

UTR3

De novo

-

-

Satterstrom2020 E
Trost2022 G

ASPG

MSSNG00208-003

chr14:
104564451-104564451

G

A

intronic

De novo

-

-

Trost2022 G

ASPG

1-0980-003

chr14:
104561639-104561639

G

A

intronic

De novo

-

-

Trost2022 G

ASPG

10-1120-003A

chr14:
104564451-104564451

G

A

intronic

De novo

-

-

Trost2022 G

ASPG

mAGRE4023

chr14:
104565211-104565211

C

T

exonic

Maternal

stopgain

NM_001080464

c.C535T

p.Q179X

32.0

-

Cirnigliaro2023 G

ASPG

mAGRE4022

chr14:
104565211-104565211

C

T

exonic

Maternal

stopgain

NM_001080464

c.C535T

p.Q179X

32.0

-

Cirnigliaro2023 G

ASPG

mAGRE2188

chr14:
104552118-104552122

CGGTG

C

exonic

Maternal

frameshift deletion

NM_001080464

c.12_15del

p.A4fs

-

-

Cirnigliaro2023 G

ASPG

mAGRE2186

chr14:
104552118-104552122

CGGTG

C

exonic

Maternal

frameshift deletion

NM_001080464

c.12_15del

p.A4fs

-

-

Cirnigliaro2023 G

ASPG

AU4234302

chr14:
104551988-104551988

C

CA

upstream

De novo

-

-

Yuen2017 G

ASPG

2-1315-003

chr14:
104577818-104577818

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ASPG

iHART2186

chr14:
104552118-104552122

CGGTG

C

exonic

Maternal

frameshift deletion

NM_001080464

c.12_15del

p.A4fs

-

-

Ruzzo2019 G

ASPG

iHART2188

chr14:
104552118-104552122

CGGTG

C

exonic

Maternal

frameshift deletion

NM_001080464

c.12_15del

p.A4fs

-

-

Ruzzo2019 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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