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Results for "FAM92B"

Variant Events: 11

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
FAM92B     1-0173-004chr16:
85149940-85149940
TGintergenicDe novo--Yuen2017 G
FAM92B     13538.p1chr16:
85143904-85143904
GAexonicDe novosynonymous SNVNM_198491c.C183Tp.N61N--Krumm2015 E
Satterstrom2020 E
FAM92B     2-1283-003chr16:
85149919-85149919
CTintergenicDe novo--Yuen2017 G
FAM92B     14198.p1chr16:
85143987-85143987
CTexonicDe novononsynonymous SNVNM_198491c.G100Ap.A34T21.01.657E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
FAM92B     1-0455-004chr16:
85149838-85149838
TTTTGTATTTAintergenicDe novo--Yuen2017 G
FAM92B     PN400477chr16:
85141478-85141479
TCTexonicUnknownframeshift deletionNM_198491c.399delGp.Q133fs-8.238E-6Leblond2019 E
FAM92B     JASD_Fam0020chr16:
85133773-85133773
GAexonicDe novononsynonymous SNVNM_198491c.C725Tp.P242L9.962-Takata2018 E
FAM92B     2-1174-005Bchr16:
85149919-85149919
CTintergenicDe novo--Yuen2017 G
FAM92B     AU4211304chr16:
85158382-85158382
GAintergenicDe novo--Yuen2017 G
FAM92B     PN400178chr16:
85141478-85141479
TCTexonicUnknownframeshift deletionNM_198491c.399delGp.Q133fs-8.238E-6Leblond2019 E
FAM92B     13796.p1chr16:
85143894-85143894
GAexonicDe novononsynonymous SNVNM_198491c.C193Tp.R65W15.68-Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 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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