Variant Results

or

or

Results for "LONP1"

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

LONP1

1360JS0006

chr19:
5707116-5707116

C

A

exonic

De novo

nonsynonymous SNV

NM_001276480
NM_004793
NM_001276479

c.G513T
c.G1101T
c.G909T

p.K171N
p.K367N
p.K303N

21.4

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

LONP1

PN400490

chr19:
5693470-5693470

C

T

exonic

Unknown

nonsynonymous SNV

NM_001276480
NM_004793
NM_001276479

c.G1954A
c.G2542A
c.G2350A

p.A652T
p.A848T
p.A784T

26.6

Leblond2019 E

LONP1

PN400308

chr19:
5693470-5693470

C

T

exonic

Unknown

nonsynonymous SNV

NM_001276480
NM_004793
NM_001276479

c.G1954A
c.G2542A
c.G2350A

p.A652T
p.A848T
p.A784T

26.6

Leblond2019 E

LONP1

1974-24044

chr19:
5720229-5720229

C

T

splicing

Inherited

splicing

-

-

Callaghan2019 G

LONP1

1-0497-003

chr19:
5703982-5703982

A

C

intronic

De novo

-

-

Yuen2017 G

LONP1

PN400104

chr19:
5693470-5693470

C

T

exonic

Unknown

nonsynonymous SNV

NM_001276480
NM_004793
NM_001276479

c.G1954A
c.G2542A
c.G2350A

p.A652T
p.A848T
p.A784T

26.6

Leblond2019 E

LONP1

10C108733

chr19:
5713148-5713148

C

G

exonic

De novo

nonsynonymous SNV

NM_001276480
NM_004793
NM_001276479

c.G47C
c.G635C
c.G443C

p.R16T
p.R212T
p.R148T

18.95

-

Fu2022 E

LONP1

PN400385

chr19:
5693470-5693470

C

T

exonic

Unknown

nonsynonymous SNV

NM_001276480
NM_004793
NM_001276479

c.G1954A
c.G2542A
c.G2350A

p.A652T
p.A848T
p.A784T

26.6

Leblond2019 E

LONP1

SP0132152

chr19:
5696262-5696262

T

C

exonic

De novo

nonsynonymous SNV

NM_001276480
NM_004793
NM_001276479

c.A1306G
c.A1894G
c.A1702G

p.K436E
p.K632E
p.K568E

26.7

-

Fu2022 E

LONP1

SP0119764

chr19:
5719954-5719954

G

A

exonic

De novo

stopgain

NM_004793

c.C190T

p.Q64X

32.0

-

Antaki2022 GE
Fu2022 E

LONP1

11236.p1

chr19:
5707168-5707168

G

A

intronic

De novo

-

-

Krumm2015 E

LONP1

ASC_11422-1

chr19:
5696275-5696275

G

A

exonic

De novo

synonymous SNV

NM_001276480
NM_004793
NM_001276479

c.C1293T
c.C1881T
c.C1689T

p.P431P
p.P627P
p.P563P

-

Fu2022 E

LONP1

1-0439-003

chr19:
5713148-5713148

C

G

exonic

De novo

nonsynonymous SNV

NM_001276480
NM_004793
NM_001276479

c.G47C
c.G635C
c.G443C

p.R16T
p.R212T
p.R148T

18.95

-

Yuen2016 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
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