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Results for "FAM135A"

Variant Events: 10

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
FAM135A     1-0252-003chr6:
71163594-71163594
TTTAintronicDe novo--Yuen2017 G
FAM135A     1-0564-003chr6:
71135279-71135279
TCintronicDe novo--Yuen2017 G
FAM135A     80001101237chr6:
71235003-71235003
CTexonicDe novononsynonymous SNVNM_001162529
NM_020819
NM_001105531
c.C2216T
c.C1577T
c.C1628T
p.P739L
p.P526L
p.P543L
6.567-Satterstrom2020 E
FAM135A     ASC_CA_173_Achr6:
71236023-71236023
ACexonicDe novononsynonymous SNVNM_001162529
NM_020819
NM_001105531
c.A3236C
c.A2597C
c.A2648C
p.Q1079P
p.Q866P
p.Q883P
11.77-Satterstrom2020 E
FAM135A     1-0279-004chr6:
71141121-71141121
CTintronicDe novo--Yuen2017 G
FAM135A     2-1277-003chr6:
71131613-71131615
CAGCintronicDe novo--Yuen2017 G
FAM135A     AU1725306chr6:
71158482-71158482
CTintronicDe novo--Yuen2017 G
FAM135A     SP0019186chr6:
71138099-71138099
CAexonicDe novostopgainNM_001162529
NM_020819
NM_001105531
c.C54A
c.C54A
c.C54A
p.Y18X
p.Y18X
p.Y18X
39.0-Feliciano2019 E
FAM135A     1-0965-003chr6:
71158741-71158741
GAintronicDe novo--Yuen2017 G
FAM135A     1-0079-008chr6:
71184517-71184517
TCintronicDe 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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