Variant Results

or

or

Results for "LSS"

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

LSS

AU4246304

chr21:
47643631-47643631

C

A

intronic

De novo

-

-

Yuen2017 G

LSS

12832.p1

chr21:
47628169-47628169

C

T

exonic

Mosaic

nonsynonymous SNV

NM_001145437
NM_001001438
NM_001145436
NM_002340

c.G1073A
c.G1313A
c.G1280A
c.G1313A

p.R358H
p.R438H
p.R427H
p.R438H

15.66

Dou2017 E
Krupp2017 E

LSS

iHART2029

chr21:
47647474-47647475

AG

A

exonic

Maternal

frameshift deletion

NM_001145437
NM_001001438
NM_001145436
NM_002340

c.70delC
c.310delC
c.310delC
c.310delC

p.L24fs
p.L104fs
p.L104fs
p.L104fs

-

-

Ruzzo2019 G

LSS

1-0559-003

chr21:
47641214-47641214

C

T

intronic

De novo

-

-

Yuen2017 G

LSS

iHART1611

chr21:
47633701-47633702

CG

C

exonic

Paternal

frameshift deletion

NM_001145437
NM_001001438
NM_001145436
NM_002340

c.819delC
c.1059delC
c.1026delC
c.1059delC

p.P273fs
p.P353fs
p.P342fs
p.P353fs

-

-

Ruzzo2019 G

LSS

SP0023396

chr21:
47641966-47641966

T

A

intronic

De novo

-

-

Fu2022 E

LSS

SP0138441

chr21:
47641789-47641789

G

A

exonic

De novo

nonsynonymous SNV

NM_001145437
NM_001001438
NM_001145436
NM_002340

c.C289T
c.C529T
c.C496T
c.C529T

p.R97W
p.R177W
p.R166W
p.R177W

19.78

Fu2022 E

LSS

12704.p1

chr21:
47628255-47628255

G

A

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

LSS

2-1093-005

chr21:
47640661-47640664

GGCC

G

intronic

De novo

-

-

Yuen2017 G

LSS

AU3951302

chr21:
47613646-47613654

ATGTGTGTG

ATGTGTG

intronic

De novo

-

-

Yuen2017 G

LSS

2-1341-004

chr21:
47639195-47639195

T

C

intronic

De novo

-

-

Yuen2017 G

LSS

TRE_188

chr21:
47611135-47611135

C

T

exonic

De novo

synonymous SNV

NM_001145437
NM_001001438
NM_001145436
NM_002340

c.G1842A
c.G2082A
c.G2049A
c.G2082A

p.G614G
p.G694G
p.G683G
p.G694G

-

-

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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