Variant Results

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Results for "LIG1"

Variant Events: 13

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

LIG1

1-0720-003

chr19:
48658015-48658015

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LIG1

SP0016369

chr19:
48626467-48626467

C

T

exonic

nonsynonymous SNV

NM_001289064
NM_001289063
NM_000234

c.G1909A
c.G2020A
c.G2113A

p.E637K
p.E674K
p.E705K

17.02

Zhou2022 GE

LIG1

AU3912303

chr19:
48646686-48646686

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LIG1

Cukier2014:37037

chr19:
48624555-48624555

C

T

exonic

Unknown

nonsynonymous SNV

NM_001289064
NM_001289063
NM_000234

c.G2053A
c.G2164A
c.G2257A

p.V685M
p.V722M
p.V753M

15.07

Cukier2014 E

LIG1

2-0223-004

chr19:
48631232-48631232

C

T

exonic

De novo

nonsynonymous SNV

NM_001289064
NM_001289063
NM_000234

c.G1663A
c.G1774A
c.G1867A

p.V555M
p.V592M
p.V623M

21.5

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

LIG1

5-0100-003

chr19:
48624626-48624626

G

A

intronic

De novo

-

Trost2022 G

LIG1

11089.p1

chr19:
48636662-48636662

G

A

intronic

De novo

-

-

Turner2016 G

LIG1

348-06-106495

chr19:
48646764-48646764

A

ACCC

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

LIG1

Wang2023:501

chr19:
48631238-48631238

C

T

exonic

De novo

nonsynonymous SNV

NM_001289064
NM_001289063
NM_000234

c.G1657A
c.G1768A
c.G1861A

p.E553K
p.E590K
p.E621K

23.3

-

Wang2023 E

LIG1

2-0305-004

chr19:
48662290-48662290

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LIG1

SP0034786

chr19:
48653560-48653560

C

A

intronic

De novo

-

-

Fu2022 E

LIG1

SP0079752

chr19:
48637223-48637223

C

G

intronic

De novo

-

-

Fu2022 E

LIG1

SP0076566

chr19:
48660241-48660241

C

G

intronic

De novo

-

-

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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