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Results for "FRMD4A"

Variant Events: 49

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
FRMD4A     2-0202-004chr10:
14182457-14182457
CTintronicDe novo--Yuen2017 G
FRMD4A     1-0028-003chr10:
14395026-14395026
CTintergenicDe novo--Yuen2017 G
FRMD4A     3-0661-000chr10:
14098656-14098656
CTintronicDe novo--Yuen2017 G
FRMD4A     1-0286-004chr10:
14262423-14262423
AAAAAAGCAGintronicDe novo--Yuen2017 G
FRMD4A     2-1177-003chr10:
14076638-14076638
TAintronicDe novo--Yuen2016 G
Yuen2017 G
FRMD4A     7-0256-003chr10:
13773179-13773179
GCintronicDe novo--Yuen2017 G
FRMD4A     2-1155-003chr10:
13740463-13740463
AGintronicDe novo--Yuen2017 G
FRMD4A     AU024607chr10:
14000082-14000082
GCintronicDe novo--Yuen2017 G
FRMD4A     AU3853302chr10:
14349160-14349160
GCintronicDe novo--Yuen2017 G
FRMD4A     1-0990-003chr10:
14032913-14032920
TAAACAAATAAAintronicDe novo--Yuen2017 G
FRMD4A     AU3874301chr10:
14148831-14148831
GAintronicDe novo--Yuen2017 G
FRMD4A     2-1645-003chr10:
13877521-13877521
GAintronicDe novo--Yuen2017 G
FRMD4A     2-1254-003chr10:
14085025-14085025
AGintronicDe novo--Yuen2016 G
FRMD4A     11023.p1chr10:
13699273-13699273
GAexonicMosaicsynonymous SNVNM_018027c.C2316Tp.A772A-1.502E-5Dou2017 E
FRMD4A     AU4072303chr10:
13966074-13966076
GAAGAintronicDe novo--Yuen2017 G
FRMD4A     1-0144-004chr10:
14199409-14199420
AGAGTGGAAGCGAintronicDe novo--Yuen2017 G
FRMD4A     2-1250-003chr10:
14281437-14281437
TCintronicDe novo--Yuen2017 G
FRMD4A     1-0671-003chr10:
14358798-14358798
GTintronicDe novo--Yuen2017 G
FRMD4A     AU026604chr10:
14389837-14389843
CATATATCATATintergenicDe novo--Yuen2017 G
FRMD4A     A10 Complex Event; expand row to view variants  De novo--Wu2018 G
Wu2018 G
FRMD4A     AU030104chr10:
14051118-14051118
AGintronicDe novo--Yuen2017 G
FRMD4A     1-0004-003chr10:
14234438-14234438
CAintronicDe novo--Yuen2017 G
FRMD4A     7-0160-003chr10:
13788260-13788260
GCintronicDe novo--Yuen2017 G
FRMD4A     AU1640302chr10:
13783558-13783558
GAintronicDe novo--Yuen2017 G
FRMD4A     2-1132-003chr10:
14019270-14019270
TAintronicDe novo--Yuen2017 G
FRMD4A     2-1093-003chr10:
13867590-13867590
ACintronicDe novo--Yuen2017 G
FRMD4A     13171.p1chr10:
14014901-14014901
CAintronicDe novo--Turner2016 G
FRMD4A     13171.p1chr10:
14027523-14027523
CGintronicDe novo--Turner2016 G
FRMD4A     AU3807302chr10:
13789947-13789947
GCintronicDe novo--Yuen2017 G
FRMD4A     14015.p1chr10:
13773566-13773566
TCintronicDe novo--Turner2016 G
FRMD4A     13171.p1chr10:
14046378-14046378
CAintronicDe novo--Turner2016 G
FRMD4A     13171.p1chr10:
14049780-14049780
CGintronicDe novo--Turner2016 G
FRMD4A     13171.p1chr10:
14031740-14031740
CGintronicDe novo--Turner2016 G
FRMD4A     AU0638302chr10:
14423347-14423347
TAintergenicDe novo--Yuen2017 G
FRMD4A     13171.p1chr10:
14038772-14038772
CGintronicDe novo--Turner2016 G
FRMD4A     13543.p1chr10:
14139845-14139845
CTintronicDe novo--Turner2016 G
FRMD4A     5-0021-003chr10:
13733073-13733073
CTintronicDe novo--Yuen2017 G
FRMD4A     AU3371305chr10:
14143629-14143629
TAintronicDe novo--Yuen2017 G
FRMD4A     AU4234303chr10:
14368828-14368828
CTintronicDe novo--Yuen2017 G
FRMD4A     13171.p1chr10:
14052927-14052927
CGintronicDe novo--Turner2016 G
FRMD4A     13171.p1chr10:
14058167-14058167
CGintronicDe novo--Turner2016 G
FRMD4A     5-0015-004chr10:
14227514-14227518
GGTTTGintronicDe novo--Yuen2017 G
FRMD4A     AU4164301chr10:
14026490-14026490
CTintronicDe novo--Yuen2017 G
FRMD4A     2-1210-003chr10:
13713830-13713830
CTintronicDe novo--Yuen2017 G
FRMD4A     1-0627-005chr10:
13749860-13749860
GAintronicDe novo--Yuen2017 G
FRMD4A     AU030103chr10:
14051118-14051118
AGintronicDe novo--Yuen2017 G
FRMD4A     2-0198-003chr10:
13707026-13707026
GTintronicDe novo--Yuen2017 G
FRMD4A     1-0359-003chr10:
13725223-13725223
GTintronicDe novo--Yuen2017 G
FRMD4A     2-1184-003chr10:
14220457-14220457
TCintronicDe 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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