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Results for "FRMD3"

Variant Events: 23

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
FRMD3     7-0100-003chr9:
85954523-85954523
AGintronicDe novo--Yuen2017 G
FRMD3     AU4242302chr9:
86212370-86212370
AGintergenicDe novo--Yuen2017 G
FRMD3     AU3951301chr9:
86145491-86145491
GAintronicDe novo--Yuen2017 G
FRMD3     2-1407-003chr9:
86199347-86199347
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
FRMD3     1-0382-004chr9:
85907214-85907214
CAintronicDe novo--Yuen2017 G
FRMD3     1-0113-003chr9:
86125364-86125364
GCintronicDe novo--Yuen2016 G
FRMD3     1-0382-003chr9:
85907214-85907214
CAintronicDe novo--Yuen2017 G
FRMD3     1-0402-004chr9:
86002396-86002396
TCintronicDe novo--Yuen2017 G
FRMD3     1-0567-004chr9:
86013731-86013731
TCintronicDe novo--Yuen2017 G
FRMD3     2-1579-003chr9:
86155651-86155651
TCintergenicDe novo--Yuen2017 G
FRMD3     iHART2883chr9:
85913715-85913717
CTTCexonicMaternalframeshift deletionNM_001244961
NM_001244959
NM_001244960
NM_174938
c.434_435del
c.1016_1017del
c.884_885del
c.1016_1017del
p.K145fs
p.K339fs
p.K295fs
p.K339fs
--Ruzzo2019 G
FRMD3     iHART2884chr9:
85913715-85913717
CTTCexonicMaternalframeshift deletionNM_001244961
NM_001244959
NM_001244960
NM_174938
c.434_435del
c.1016_1017del
c.884_885del
c.1016_1017del
p.K145fs
p.K339fs
p.K295fs
p.K339fs
--Ruzzo2019 G
FRMD3     AU003405chr9:
86164174-86164174
CTintergenicDe novo--Yuen2017 G
FRMD3     13598.p1chr9:
85926860-85926860
AGexonicDe novononsynonymous SNVNM_001244961
NM_001244959
NM_001244960
NM_174938
c.T133C
c.T715C
c.T583C
c.T715C
p.F45L
p.F239L
p.F195L
p.F239L
15.86-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
FRMD3     7-0123-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
FRMD3     2-0081-003chr9:
86054511-86054511
AGintronicDe novo--Yuen2017 G
FRMD3     2-0081-003chr9:
85911835-85911835
CTintronicDe novo--Yuen2017 G
FRMD3     3-0134-000chr9:
85958494-85958494
CGintronicDe novo--Yuen2017 G
FRMD3     AU1635302chr9:
86071438-86071438
CTintronicDe novo--Yuen2017 G
FRMD3     2-1244-003chr9:
86117146-86117146
CTintronicDe novo--Yuen2017 G
FRMD3     AU1987301chr9:
86034883-86034883
CTintronicDe novo--Yuen2017 G
FRMD3     1-0772-003chr9:
85991272-85991274
GTTGTintronicDe novo--Yuen2017 G
FRMD3     7-0123-003chr9:
86165312-86165312
TCintergenicDe 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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