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Results for "FAM149B1"

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
FAM149B1     iHART2168chr10:
74968403-74968403
AATexonicMaternalframeshift insertionNM_173348c.570dupTp.H190fs--Ruzzo2019 G
FAM149B1     111317chr10:
74992768-74992768
GAexonicnonsynonymous SNVNM_173348c.G1199Ap.R400Q33.03.0E-4Woodbury-Smith2022 E
FAM149B1     AU028305chr10:
74961909-74961909
CTintronicDe novo--Yuen2017 G
FAM149B1     mAGRE2168chr10:
74968403-74968403
AATexonicMaternalframeshift insertionNM_173348c.570dupTp.H190fs--Cirnigliaro2023 G
FAM149B1     mAGRE2949chr10:
74953233-74953233
AGsplicingMaternalsplicing17.98-Cirnigliaro2023 G
FAM149B1     iHART2949chr10:
74953233-74953233
AGsplicingMaternalsplicing17.98-Ruzzo2019 G
FAM149B1     SP0076718chr10:
74928210-74928210
CCAGTintronicDe novo--Fu2022 E
FAM149B1     mAGRE2948chr10:
74953233-74953233
AGsplicingMaternalsplicing17.98-Cirnigliaro2023 G
FAM149B1     iHART2948chr10:
74953233-74953233
AGsplicingMaternalsplicing17.98-Ruzzo2019 G
FAM149B1     SP0111234chr10:
74990272-74990272
GCexonicnonsynonymous SNVNM_173348c.G1116Cp.M372I18.06.0E-4Zhou2022 GE
FAM149B1     08C75910chr10:
74992952-74992952
CTintronicDe novo--Satterstrom2020 E
Trost2022 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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