Variant Results

or

Results for "ELMO1"

Variant Events: 81

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

ELMO1

NDAR_INVXC606PL1_wes1

chr7:
37272679-37272679

A

C

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

ELMO1

1-0290-003

chr7:
37658627-37658627

C

T

intergenic

De novo

-

Yuen2017 G

ELMO1

1-0998-003

chr7:
37600005-37600005

C

T

intergenic

De novo

-

Yuen2017 G

ELMO1

965_17au

chr7:
36917502-36917502

T

G

intronic

De novo

-

Fu2022 E

ELMO1

1-0387-003

chr7:
36893562-36893585

TTCTTTTCATTGCTAAATGTGCTC

TTC

UTR3

De novo

-

Yuen2017 G

ELMO1

1-0006-004

chr7:
36930598-36930614

ACCCTTCTCCCAAATAC

A

intronic

De novo

-

Yuen2017 G

ELMO1

1-0019-004

chr7:
36991307-36991307

A

C

intronic

De novo

-

Yuen2017 G

ELMO1

11316.p1

chr7:
37355576-37355576

C

CA

intronic

De novo

-

8.332E-6

Dong2014 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ELMO1

1-0763-004

chr7:
36924853-36924854

AT

A

intronic

De novo

-

Yuen2017 G

ELMO1

1-0150-004

chr7:
37312449-37312449

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

7-0192-003

chr7:
37255398-37255398

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

AU2433303

chr7:
37375439-37375439

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

1-0107-003

chr7:
37619510-37619510

T

A

intergenic

De novo

-

Yuen2017 G

ELMO1

2-1163-003

chr7:
37672162-37672162

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ELMO1

AU2463301

chr7:
36932104-36932104

C

T

intronic

De novo

-

Trost2022 G

ELMO1

7-0456-003

chr7:
36955479-36955479

T

C

intronic

De novo

-

Trost2022 G

ELMO1

MSSNG00004-004

chr7:
36910044-36910044

T

C

exonic

De novo

nonsynonymous SNV

NM_001039459
NM_130442
NM_001206480
NM_001206482
NM_014800

c.A419G
c.A419G
c.A1859G
c.A1859G
c.A1859G

p.K140R
p.K140R
p.K620R
p.K620R
p.K620R

18.28

-

Trost2022 G

ELMO1

2-1526-003

chr7:
36923078-36923079

GG

TT

intronic

De novo

-

Trost2022 G

ELMO1

AU3053301

chr7:
36896175-36896175

A

AG

intronic

De novo

-

Trost2022 G

ELMO1

AU4429301

chr7:
37175274-37175274

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

7-0058-003

chr7:
36943422-36943422

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

REACH000228

chr7:
37054008-37054008

T

G

intronic

De novo

-

Trost2022 G

ELMO1

5-0125-003

chr7:
36925554-36925554

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

3-0504-000

chr7:
37068030-37068030

T

C

intronic

De novo

-

Trost2022 G

ELMO1

SP0246049

chr7:
37024486-37024486

C

T

intronic

De novo

-

Trost2022 G

ELMO1

5-0012-003

chr7:
36978426-36978426

T

G

intronic

De novo

-

Trost2022 G

ELMO1

MSSNG00085-003

chr7:
37014873-37014873

G

C

intronic

De novo

-

Trost2022 G

ELMO1

2-1286-003

chr7:
36960782-36960782

A

G

intronic

De novo

-

Trost2022 G

ELMO1

REACH000601

chr7:
36972422-36972422

A

G

intronic

De novo

-

Trost2022 G

ELMO1

MSSNG00002-003

chr7:
37238670-37238670

T

C

intronic

De novo

-

Trost2022 G

ELMO1

MSSNG00245-003

chr7:
37265687-37265687

G

A

intronic

De novo

-

Trost2022 G

ELMO1

1-0092-004

chr7:
37193214-37193215

AG

CT

intronic

De novo

-

Trost2022 G

ELMO1

7-0287-003

chr7:
37196090-37196090

G

A

intronic

De novo

-

Trost2022 G

ELMO1

1-1179-003

chr7:
37183239-37183239

T

C

intronic

De novo

-

Trost2022 G

ELMO1

MSSNG00101-004

chr7:
37183892-37183892

A

G

intronic

De novo

-

Trost2022 G

ELMO1

4-0062-003

chr7:
37109757-37109758

TA

CT

intronic

De novo

-

Trost2022 G

ELMO1

MSSNG00374-003

chr7:
37182819-37182819

T

G

intronic

De novo

-

Trost2022 G

ELMO1

1-0647-003

chr7:
37356967-37356967

A

ACT

intronic

De novo

-

Trost2022 G

ELMO1

1-0647-003

chr7:
37356969-37356969

C

CA

intronic

De novo

-

Trost2022 G

ELMO1

1-1040-003

chr7:
37349699-37349699

C

T

intronic

De novo

-

Trost2022 G

ELMO1

SSC00534

chr7:
37355576-37355576

C

CA

intronic

De novo

-

8.332E-6

Trost2022 G

ELMO1

5-0091-003

chr7:
37287168-37287168

T

G

intronic

De novo

-

Trost2022 G

ELMO1

3-0460-000

chr7:
37323830-37323830

C

T

intronic

De novo

-

Trost2022 G

ELMO1

2-0142-003

chr7:
37729517-37729517

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

MSSNG00254-004

chr7:
37268493-37268493

A

G

intronic

De novo

-

Trost2022 G

ELMO1

MSSNG00235-003

chr7:
37279031-37279031

A

C

intronic

De novo

-

Trost2022 G

ELMO1

AU4089301

chr7:
36926463-36926463

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

3-0262-000

chr7:
37463820-37463820

T

C

intronic

De novo

-

Trost2022 G

ELMO1

7-0240-004

chr7:
37463994-37463994

G

A

intronic

De novo

-

Trost2022 G

ELMO1

AU3632301

chr7:
37233563-37233563

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

MSSNG00342-003

chr7:
37406623-37406623

C

T

intronic

De novo

-

Trost2022 G

ELMO1

7-0160-003

chr7:
36895515-36895515

T

A

intronic

De novo

-

Yuen2017 G

ELMO1

1-1109-003

chr7:
37457060-37457060

C

T

intronic

De novo

-

Trost2022 G

ELMO1

MSSNG00005-003

chr7:
37385411-37385411

G

A

intronic

De novo

-

Trost2022 G

ELMO1

MSSNG00027-004

chr7:
37401124-37401124

G

A

intronic

De novo

-

Trost2022 G

ELMO1

1-0647-003

chr7:
37356972-37356977

ACTTGG

A

intronic

De novo

-

Trost2022 G

ELMO1

SJD_50.5

chr7:
37360441-37360441

A

G

intronic

De novo

-

Trost2022 G

ELMO1

1-0757-003

chr7:
37677003-37677003

G

A

intergenic

De novo

-

Yuen2017 G

ELMO1

REACH000073

chr7:
37766911-37766911

G

A

intergenic

De novo

-

Trost2022 G

ELMO1

2-1322-003

chr7:
37292715-37292715

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

REACH000701

chr7:
37768576-37768576

T

G

intergenic

De novo

-

Trost2022 G

ELMO1

3-0740-000A

chr7:
37739035-37739035

C

T

intergenic

De novo

-

Trost2022 G

ELMO1

1-0488-003

chr7:
37135493-37135493

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

MSSNG00031-004

chr7:
37765367-37765367

T

C

intergenic

De novo

-

Trost2022 G

ELMO1

2-1417-003

chr7:
37465339-37465340

GT

G

intronic

De novo

-

Trost2022 G

ELMO1

iHART2726

chr7:
37769516-37769516

A

G

intergenic

Maternal

-

Ruzzo2019 G

ELMO1

3-0202-000

chr7:
37483123-37483123

G

C

intronic

De novo

-

Trost2022 G

ELMO1

7-0055-003

chr7:
37439106-37439106

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

mAGRE2726

chr7:
37769516-37769516

A

G

intergenic

Maternal

-

Cirnigliaro2023 G

ELMO1

7-0032-003

chr7:
37655789-37655789

G

A

intergenic

De novo

-

Yuen2017 G

ELMO1

12731.p1

chr7:
37442008-37442008

G

A

intronic

De novo

-

Werling2018 G

ELMO1

1-0555-003

chr7:
36950546-36950546

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

2-1399-003

chr7:
37601915-37601915

A

C

intergenic

De novo

-

Yuen2017 G

ELMO1

2-1297-004

chr7:
37202671-37202671

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

AU3912302

chr7:
37443418-37443418

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

12449.p1

chr7:
37009920-37009920

T

C

intronic

De novo

-

Turner2016 G

ELMO1

13649.p1

chr7:
37618612-37618612

C

T

intergenic

De novo

-

Turner2016 G

ELMO1

2-1619-004

chr7:
37191099-37191099

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

AU4211304

chr7:
37207347-37207347

C

G

intronic

De novo

-

Yuen2017 G

ELMO1

7-0174-003

chr7:
37262786-37262791

CAAAAA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELMO1

2-0144-004

chr7:
37424972-37424972

C

CTA

intronic

De novo

-

Trost2022 G
Yuen2017 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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