or
or
Exact

Results for "FGF13"

Variant Events: 14

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
FGF13     AU1635302chrX:
138118812-138118812
ATintronicDe novo--Yuen2017 G
FGF13     AU4197302chrX:
138169249-138169249
GAintronicDe novo--Yuen2017 G
FGF13     AU3808304chrX:
138066744-138066758
AAGAAGAAGGAGGAGAAGintronicDe novo--Yuen2017 G
FGF13     Bruno2021:XIXchrX:
137939724-137939727
AAGAAexonicDe novononframeshift deletionNM_001139502
NM_001139500
NM_001139501
c.77_79del
c.164_166del
c.77_79del
p.26_27del
p.55_56del
p.26_27del
--Bruno2021 E
FGF13     2-1268-003chrX:
138462212-138462212
GTintergenicDe novo--Yuen2017 G
FGF13     1-0447-003chrX:
138297700-138297702
CCTCintergenicDe novo--Yuen2017 G
FGF13     7-0128-003chrX:
138294893-138294893
CAintergenicDe novo--Yuen2017 G
FGF13     AU2950302chrX:
137789035-137789035
GAintronicDe novo--Yuen2017 G
FGF13     AU3302302chrX:
138452526-138452526
TAintergenicDe novo--Yuen2017 G
FGF13     1-0215-006chrX:
138256281-138256281
TCintronicDe novo--Yuen2017 G
FGF13     1-0173-004chrX:
137778002-137778002
TCintronicDe novo--Yuen2017 G
FGF13     2-1306-003chrX:
137744252-137744266
AGCTTCATCCAAGTCAintronicDe novo--Yuen2017 G
FGF13     AU050604chrX:
138049022-138049022
AGintronicDe novo--Yuen2017 G
FGF13     AU4378301chrX:
137956197-137956199
AGGAGGGintronicDe novo--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 notesView
More