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Results for "FAM161B"

Variant Events: 12

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
FAM161B     14080_p1chr14:
74411503-74411503
GAexonicDe novononsynonymous SNVNM_152445c.C649Tp.R217W16.889.199E-6Fu2022 E
FAM161B     MSSNG00247-003chr14:
74413148-74413148
TCexonicDe novononsynonymous SNVNM_152445c.A404Gp.Q135R11.26-Trost2022 G
Zhou2022 GE
FAM161B     iHART1532chr14:
74401014-74401014
TTAexonicPaternalframeshift insertionNM_152445c.2077_2078insTp.K693fs-8.238E-6Ruzzo2019 G
FAM161B     iHART1531chr14:
74401014-74401014
TTAexonicPaternalframeshift insertionNM_152445c.2077_2078insTp.K693fs-8.238E-6Ruzzo2019 G
FAM161B     CA134A2chr14:
74409110-74409110
GAexonicDe novostopgainNM_152445c.C1423Tp.Q475X37.0-Fu2022 E
FAM161B     SP0065631chr14:
74413201-74413201
CTexonicDe novosynonymous SNVNM_152445c.G351Ap.E117E--Fu2022 E
Trost2022 G
Zhou2022 GE
FAM161B     mAGRE5862chr14:
74413149-74413149
GGTAexonicPaternalframeshift insertionNM_152445c.402_403insTAp.Q135fs--Cirnigliaro2023 G
FAM161B     mAGRE4362chr14:
74402705-74402706
ACAexonicMaternalframeshift deletionNM_152445c.1940delGp.G647fs--Cirnigliaro2023 G
FAM161B     mAGRE4852chr14:
74402673-74402675
GTCGexonicMaternalframeshift deletionNM_152445c.1971_1972delp.E657fs--Cirnigliaro2023 G
FAM161B     mAGRE1532chr14:
74401014-74401014
TTAexonicPaternalframeshift insertionNM_152445c.2077_2078insTp.K693fs-8.238E-6Cirnigliaro2023 G
FAM161B     mAGRE1531chr14:
74401014-74401014
TTAexonicPaternalframeshift insertionNM_152445c.2077_2078insTp.K693fs-8.238E-6Cirnigliaro2023 G
FAM161B     14080.p1chr14:
74411503-74411503
GAexonicDe novononsynonymous SNVNM_152445c.C649Tp.R217W16.889.199E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
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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