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Results for "FER1L6"

Variant Events: 15

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
FER1L6     AU025704chr8:
124866846-124866846
GAintronicDe novo--Yuen2017 G
FER1L6     SP0001491chr8:
125094635-125094635
GAexonicDe novononsynonymous SNVNM_001039112c.G4327Ap.D1443N35.04.944E-5Feliciano2019 E
FER1L6     AU3861303chr8:
124866442-124866442
TCintronicDe novo--Yuen2017 G
FER1L6     AU3761302chr8:
124877398-124877398
CTintronicDe novo--Yuen2017 G
FER1L6     1-0458-003chr8:
124938011-124938011
CTintronicDe novo--Yuen2017 G
FER1L6     2-1738-003chr8:
124965120-124965120
CTintronicDe novo--Yuen2017 G
FER1L6     1-0446-003chr8:
124946119-124946123
CAAGACintronicDe novo--Yuen2017 G
FER1L6     SP0019454chr8:
125072486-125072486
GAexonicDe novosynonymous SNVNM_001039112c.G2940Ap.P980P-4.136E-5Feliciano2019 E
FER1L6     iHART2070chr8:
125081650-125081654
GAAGAGexonicPaternalframeshift deletionNM_001039112c.3769_3772delp.K1257fs-5.807E-5Ruzzo2019 G
FER1L6     iHART2072chr8:
125081650-125081654
GAAGAGexonicPaternalframeshift deletionNM_001039112c.3769_3772delp.K1257fs-5.807E-5Ruzzo2019 G
FER1L6     iHART1820chr8:
125113581-125113581
TCsplicingPaternalsplicing21.08.337E-6Ruzzo2019 G
FER1L6     iHART3275chr8:
124989660-124989660
CTexonicPaternalstopgainNM_001039112c.C874Tp.R292X38.05.045E-5Ruzzo2019 G
FER1L6     AU072504chr8:
124894518-124894518
CGintronicDe novo--Yuen2017 G
FER1L6     iHART2071chr8:
125081650-125081654
GAAGAGexonicPaternalframeshift deletionNM_001039112c.3769_3772delp.K1257fs-5.807E-5Ruzzo2019 G
FER1L6     iHART1312chr8:
124989818-124989819
GAGexonicPaternalframeshift deletionNM_001039112c.1033delAp.K345fs-9.955E-5Ruzzo2019 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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