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Results for "EFCAB5"

Variant Events: 20

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
EFCAB5     2-1781-003chr17:
28429535-28429535
TAintronicDe novo--Trost2022 G
EFCAB5     6-0476-003chr17:
28436024-28436024
GAdownstreamDe novo--Trost2022 G
EFCAB5     mAGRE5312chr17:
28380314-28380315
TGTexonicPaternalframeshift deletionNM_001145053
NM_198529
c.1175delG
c.1343delG
p.W392fs
p.W448fs
-8.414E-6Cirnigliaro2023 G
EFCAB5     mAGRE5399chr17:
28268821-28268821
GTexonicPaternalstopgainNM_198529c.G7Tp.E3X21.33.785E-5Cirnigliaro2023 G
EFCAB5     5-0033-004chr17:
28290828-28290828
TTGGGAintronicDe novo--Trost2022 G
Yuen2017 G
EFCAB5     Cukier2014:17678chr17:
28268857-28268857
GAsplicingUnknownsplicing12.70.007Cukier2014 E
EFCAB5     MSSNG00408-003chr17:
28265178-28265178
AGintronicDe novo--Trost2022 G
EFCAB5     AU4067303chr17:
28397650-28397650
AGintronicDe novo--Trost2022 G
Yuen2017 G
EFCAB5     5-5123-005chr17:
28285877-28285877
CAintronicDe novo--Trost2022 G
EFCAB5     3-0471-000chr17:
28257922-28257924
CCTCintronicDe novo--Trost2022 G
Trost2022 G
EFCAB5     1-0531-003chr17:
28360885-28360885
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
EFCAB5     13590.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_001145053
NM_001145053
c.2543delT
c.2542delT
p.F848fs
p.F848fs
--Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Willsey2013 E
EFCAB5     SP0088523chr17:
28383180-28383180
TGintronicDe novo--Trost2022 G
EFCAB5     SSC08266chr17:
28400678-28400679
GTGexonicDe novoframeshift deletionNM_001145053c.2542delTp.F848fs--Trost2022 G
EFCAB5     1-1006-003Achr17:
28372201-28372201
CAintronicDe novo--Trost2022 G
EFCAB5     2-1546-003chr17:
28375866-28375866
TTAGCintronicDe novo--Trost2022 G
EFCAB5     1-0611-005chr17:
28315673-28315673
CAintronicDe novo--Trost2022 G
EFCAB5     SJD_55.3chr17:
28370789-28370789
AGintronicDe novo--Trost2022 G
EFCAB5     AU2320301chr17:
28294874-28294874
ATintronicDe novo--Trost2022 G
EFCAB5     1-0700-004chr17:
28299677-28299677
CTintronicDe novo--Trost2022 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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