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Results for "ELMO1"

Variant Events: 37

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_wes1chr7:
37272679-37272679
ACintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ELMO1     1-0290-003chr7:
37658627-37658627
CTintergenicDe novo--Yuen2017 G
ELMO1     1-0998-003chr7:
37600005-37600005
CTintergenicDe novo--Yuen2017 G
ELMO1     2-0142-003chr7:
37729517-37729517
GAintergenicDe novo--Yuen2017 G
ELMO1     1-0387-003chr7:
36893562-36893585
TTCTTTTCATTGCTAAATGTGCTCTTCUTR3De novo--Yuen2017 G
ELMO1     AU4089301chr7:
36926463-36926463
AGintronicDe novo--Yuen2017 G
ELMO1     1-0006-004chr7:
36930598-36930614
ACCCTTCTCCCAAATACAintronicDe novo--Yuen2017 G
ELMO1     1-0019-004chr7:
36991307-36991307
ACintronicDe novo--Yuen2017 G
ELMO1     AU3632301chr7:
37233563-37233563
CTintronicDe novo--Yuen2017 G
ELMO1     7-0160-003chr7:
36895515-36895515
TAintronicDe novo--Yuen2017 G
ELMO1     11316.p1chr7:
37355576-37355576
CCAintronicDe novo-8.332E-6Dong2014 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ELMO1     1-0763-004chr7:
36924853-36924854
ATAintronicDe novo--Yuen2017 G
ELMO1     1-0757-003chr7:
37677003-37677003
GAintergenicDe novo--Yuen2017 G
ELMO1     2-1322-003chr7:
37292715-37292715
CTintronicDe novo--Yuen2017 G
ELMO1     1-0488-003chr7:
37135493-37135493
TCintronicDe novo--Yuen2017 G
ELMO1     iHART2726chr7:
37769516-37769516
AGintergenicMaternal--Ruzzo2019 G
ELMO1     7-0055-003chr7:
37439106-37439106
CTintronicDe novo--Yuen2017 G
ELMO1     1-0150-004chr7:
37312449-37312449
GAintronicDe novo--Yuen2017 G
ELMO1     7-0032-003chr7:
37655789-37655789
GAintergenicDe novo--Yuen2017 G
ELMO1     12731.p1chr7:
37442008-37442008
GAintronicDe novo--Werling2018 G
ELMO1     1-0555-003chr7:
36950546-36950546
AGintronicDe novo--Yuen2017 G
ELMO1     7-0192-003chr7:
37255398-37255398
CGintronicDe novo--Yuen2017 G
ELMO1     AU2433303chr7:
37375439-37375439
GAintronicDe novo--Yuen2017 G
ELMO1     2-1399-003chr7:
37601915-37601915
ACintergenicDe novo--Yuen2017 G
ELMO1     1-0107-003chr7:
37619510-37619510
TAintergenicDe novo--Yuen2017 G
ELMO1     2-1163-003chr7:
37672162-37672162
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ELMO1     2-1297-004chr7:
37202671-37202671
CTintronicDe novo--Yuen2017 G
ELMO1     AU3912302chr7:
37443418-37443418
GAintronicDe novo--Yuen2017 G
ELMO1     AU4429301chr7:
37175274-37175274
AGintronicDe novo--Yuen2017 G
ELMO1     12449.p1chr7:
37009920-37009920
TCintronicDe novo--Turner2016 G
ELMO1     7-0058-003chr7:
36943422-36943422
CTintronicDe novo--Yuen2017 G
ELMO1     13649.p1chr7:
37618612-37618612
CTintergenicDe novo--Turner2016 G
ELMO1     5-0125-003chr7:
36925554-36925554
ACintronicDe novo--Yuen2017 G
ELMO1     2-1619-004chr7:
37191099-37191099
GAintronicDe novo--Yuen2017 G
ELMO1     AU4211304chr7:
37207347-37207347
CGintronicDe novo--Yuen2017 G
ELMO1     7-0174-003chr7:
37262786-37262791
CAAAAACintronicDe novo--Yuen2017 G
ELMO1     2-0144-004chr7:
37424972-37424972
CCTAintronicDe novo--Yuen2017 G
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
Curation notesView
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