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Results for "SPEF2"

Variant Events: 18

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
SPEF2     11372.p1chr5:
35667380-35667380
AGintronicDe novo--Krumm2015 E
Satterstrom2020 E
SPEF2     1-0473-003chr5:
35719056-35719056
ACintronicDe novo--Yuen2017 G
SPEF2     1-0745-003chr5:
35843295-35843295
TGintergenicDe novo--Yuen2017 G
SPEF2     1-0161-003chr5:
35708783-35708783
CCAintronicDe novo--Yuen2017 G
SPEF2     5-0137-003chr5:
35691509-35691509
CTintronicDe novo--Yuen2017 G
SPEF2     AU0638302chr5:
35723934-35723934
AGintronicDe novo--Yuen2017 G
SPEF2     3-0109-000chr5:
35740319-35740319
GAexonicDe novononsynonymous SNVNM_024867c.G3280Ap.D1094N32.0-Tammimies2015 E
SPEF2     AU2975302chr5:
35766697-35766697
AGintronicDe novo--Yuen2017 G
SPEF2     AU025704chr5:
35722096-35722096
GTintronicDe novo--Yuen2017 G
SPEF2     AU4176302chr5:
35629797-35629797
CTintronicDe novo--Yuen2017 G
SPEF2     11089.p1chr5:
35690310-35690310
ATintronicDe novo--Turner2016 G
SPEF2     11089.p1chr5:
35690312-35690312
GTintronicDe novo--Turner2016 G
SPEF2     iHART3059chr5:
35659140-35659142
AGCAexonicPaternalframeshift deletionNM_024867
NM_144722
c.999_1000del
c.999_1000del
p.Q333fs
p.Q333fs
-5.063E-5Ruzzo2019 G
SPEF2     AU005214chr5:
35664060-35664060
ATintronicDe novo--Yuen2017 G
SPEF2     13230.p1chr5:
35691412-35691412
TCintronicMosaic--Dou2017 E
SPEF2     1-0246-005chr5:
35657404-35657404
ATintronicDe novo--Yuen2017 G
SPEF2     1-0534-003chr5:
35708651-35708651
CCCAintronicDe novo--Yuen2017 G
SPEF2     1-0051-005chr5:
35737259-35737259
CTintronicDe 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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