Variant Results

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Results for "LRP10"

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

LRP10

NP147

chr14:
23346233-23346233

C

T

exonic

De novo

nonsynonymous SNV

NM_014045

c.C1639T

p.R547C

16.79

-

Fu2022 E
Satterstrom2020 E

LRP10

SP0024921

chr14:
23345066-23345066

T

C

exonic

De novo

synonymous SNV

NM_014045

c.T909C

p.H303H

6.607

-

Feliciano2019 E
Fu2022 E

LRP10

SP0048034

chr14:
23345963-23345963

G

A

exonic

De novo

nonsynonymous SNV

NM_014045

c.G1490A

p.G497E

31.0

-

Feliciano2019 E
Fu2022 E

LRP10

iHART2262

chr14:
23346254-23346254

C

T

exonic

Maternal

stopgain

NM_014045

c.C1660T

p.R554X

37.0

Ruzzo2019 G

LRP10

iHART2962

chr14:
23345370-23345370

C

T

exonic

Paternal

stopgain

NM_014045

c.C1213T

p.R405X

36.0

Ruzzo2019 G

LRP10

044-07-107700

chr14:
23345199-23345199

A

C

exonic

De novo

nonsynonymous SNV

NM_014045

c.A1042C

p.T348P

19.31

-

Fu2022 E
Satterstrom2020 E

LRP10

iHART2261

chr14:
23346254-23346254

C

T

exonic

Maternal

stopgain

NM_014045

c.C1660T

p.R554X

37.0

Ruzzo2019 G

LRP10

SP0120214

chr14:
23346297-23346297

G

T

exonic

De novo

nonsynonymous SNV

NM_014045

c.G1703T

p.R568L

13.57

-

Fu2022 E

LRP10

iHART2959

chr14:
23345370-23345370

C

T

exonic

Paternal

stopgain

NM_014045

c.C1213T

p.R405X

36.0

Ruzzo2019 G

LRP10

MT_69

chr14:
23345532-23345532

G

A

exonic

Maternal

nonsynonymous SNV

NM_014045

c.G1375A

p.A459T

32.0

-

Toma2013 E

LRP10

JASD_Fam0190

chr14:
23346233-23346233

C

T

exonic

De novo

nonsynonymous SNV

NM_014045

c.C1639T

p.R547C

16.79

-

Takata2018 E

LRP10

09C95304

chr14:
23344567-23344567

G

A

exonic

De novo

stopgain

NM_014045

c.G410A

p.W137X

22.5

-

Fu2022 E
Satterstrom2020 E

LRP10

ASC_CA_74_A

chr14:
23344630-23344630

G

A

exonic

De novo

nonsynonymous SNV

NM_014045

c.G473A

p.R158H

13.86

Fu2022 E
Satterstrom2020 E

Source Variant Information

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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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