Variant Results

or

or

Results for "LIPI"

Variant Events: 17

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

LIPI

mAGRE1746

chr21:
15537713-15537713

T

A

splicing

Paternal

splicing

9.86

Cirnigliaro2023 G

LIPI

5-0042-003

chr21:
15562874-15562874

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LIPI

Cukier2014:18074

chr21:
15524921-15524921

C

T

exonic

Unknown

nonsynonymous SNV

NM_001302999
NM_001302998
NM_001303000
NM_198996

c.G1001A
c.G1091A
c.G1073A
c.G1154A

p.G334E
p.G364E
p.G358E
p.G385E

23.8

Cukier2014 E

LIPI

iHART1746

chr21:
15537713-15537713

T

A

splicing

Paternal

splicing

9.86

Ruzzo2019 G

LIPI

SP0116535

chr21:
15561399-15561399

T

A

exonic

De novo

stopgain

NM_001302998
NM_001302999
NM_001303000
NM_001303001
NM_198996

c.A388T
c.A388T
c.A388T
c.A388T
c.A451T

p.R130X
p.R130X
p.R130X
p.R130X
p.R151X

37.0

-

Fu2022 E
Zhou2022 GE

LIPI

1-0459-003

chr21:
15564524-15564524

G

A

intronic

De novo

-

-

Yuen2017 G

LIPI

AU3907302

chr21:
15580552-15580552

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LIPI

AU4015303

chr21:
15522533-15522533

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LIPI

AU2653301

chr21:
15562885-15562885

T

C

intronic

De novo

-

-

Trost2022 G

LIPI

AM03ZF-03

chr21:
15558130-15558130

C

T

intronic

De novo

-

-

Trost2022 G

LIPI

1-0665-003

chr21:
15509840-15509843

AGGC

TG

intronic

De novo

-

-

Trost2022 G

LIPI

2-1521-003

chr21:
15574236-15574236

G

A

intronic

De novo

-

-

Yuen2017 G

LIPI

5-0026-003

chr21:
15509840-15509843

AGGC

TG

intronic

De novo

-

-

Trost2022 G

LIPI

1-0057-003

chr21:
15509840-15509843

AGGC

TG

intronic

De novo

-

-

Trost2022 G

LIPI

MSSNG00352-004

chr21:
15501618-15501618

C

T

intronic

De novo

-

-

Trost2022 G

LIPI

2-1153-003

chr21:
15539409-15539409

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LIPI

AU2328301

chr21:
15501065-15501065

T

C

intronic

De novo

-

-

Trost2022 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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