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Results for "FAM184B"

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
FAM184B     AU3724302chr4:
17708462-17708462
GAintronicDe novo--Yuen2017 G
FAM184B     AU3605303chr4:
17702210-17702210
GAintronicDe novo--Yuen2017 G
FAM184B     74-0752chr4:
17782809-17782809
CTexonicInheritednonsynonymous SNVNM_015688c.G114Ap.M38I18.33-Patowary2019 E
FAM184B     7-0008-003chr4:
17766122-17766122
TCintronicDe novo--Yuen2017 G
FAM184B     2-1153-003chr4:
17762475-17762475
GCintronicDe novo--Yuen2016 G
Yuen2017 G
FAM184B     AU3997301chr4:
17670179-17670179
GAintronicDe novo--Yuen2017 G
FAM184B     AU2139305chr4:
17793124-17793124
GAintergenicDe novo--Yuen2017 G
FAM184B     iHART1571chr4:
17634167-17634167
GCexonicPaternalstopgainNM_015688c.C3171Gp.Y1057X43.0-Ruzzo2019 G
FAM184B     13252.p1 Complex Event; expand row to view variants  Mosaic, De novononsynonymous SNVNM_015688
NM_015688
c.C1196A
c.C1196T
p.T399K
p.T399I
12.14-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
FAM184B     Lim2017:68744chr4:
17706804-17706804
GTexonicDe novononsynonymous SNVNM_015688c.C1196Ap.T399K3.237-Lim2017 E
FAM184B     AU1894304chr4:
17645535-17645535
AGintronicDe novo--Yuen2017 G
FAM184B     iHART1573chr4:
17634167-17634167
GCexonicPaternalstopgainNM_015688c.C3171Gp.Y1057X43.0-Ruzzo2019 G
FAM184B     2-1251-003chr4:
17750208-17750208
CTintronicDe novo--Yuen2017 G
FAM184B     Cukier2014:17545chr4:
17690072-17690072
TCexonicUnknownnonsynonymous SNVNM_015688c.A1571Gp.Q524R6.0180.0377Cukier2014 E
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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