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Results for "FAM169A"

Variant Events: 16

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
FAM169A     08C78951chr5:
74130375-74130379
AATTCAexonicDe novoframeshift deletionNM_015566c.362_365delp.R121fs--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
FAM169A     AU071703chr5:
74181406-74181406
CTintergenicDe novo--Yuen2017 G
FAM169A     2-0070-003chr5:
74192225-74192225
GAintergenicDe novo--Yuen2017 G
FAM169A     AU076509chr5:
74279922-74279922
CTintergenicDe novo--Yuen2017 G
FAM169A     08C75433chr5:
74134854-74134854
TAexonicDe novononsynonymous SNVNM_015566c.A254Tp.D85V23.0-Satterstrom2020 E
FAM169A     A23chr5:
74253670-74253670
CAintergenicDe novo--Wu2018 G
FAM169A     AU4197302chr5:
74287164-74287164
TCintergenicDe novo--Yuen2017 G
FAM169A     2-1591-003chr5:
74252665-74252665
CTintergenicDe novo--Yuen2017 G
FAM169A     SP0019703chr5:
74077826-74077826
CAexonicDe novononsynonymous SNVNM_015566c.G1472Tp.R491L6.624-Feliciano2019 E
FAM169A     2-1508-003chr5:
74185567-74185567
CAintergenicDe novo--Yuen2017 G
FAM169A     AU065807chr5:
74257743-74257743
CTintergenicDe novo--Yuen2017 G
FAM169A     2-1338-003chr5:
74321341-74321341
ATintergenicDe novo--Yuen2017 G
FAM169A     1-0007-003chr5:
74089760-74089760
AGintronicDe novo--Yuen2017 G
FAM169A     Cukier2014:37117chr5:
74101028-74101028
CTexonicUnknownnonsynonymous SNVNM_015566c.G752Ap.R251Q29.7-Cukier2014 E
FAM169A     AU2777302chr5:
74112200-74112200
AGintronicDe novo--Yuen2017 G
FAM169A     2-1415-004chr5:
74284723-74284723
ATintergenicDe 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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