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Results for "PHTF1"

Variant Events: 8

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
PHTF1     AU011021chr1:
114262564-114262564
CTintronicDe novo--Yuen2017 G
PHTF1     iHART1145chr1:
114243565-114243565
GAexonicMaternalstopgainNM_006608c.C1897Tp.Q633X41.02.0E-4Ruzzo2019 G
PHTF1     iHART1146chr1:
114243565-114243565
GAexonicMaternalstopgainNM_006608c.C1897Tp.Q633X41.02.0E-4Ruzzo2019 G
PHTF1     AU4013302chr1:
114289097-114289097
CTintronicDe novo--Yuen2017 G
PHTF1     PN400539chr1:
114246774-114246774
GAexonicDe novononsynonymous SNVNM_006608c.C1819Tp.R607C17.04-Leblond2019 E
PHTF1     1-0214-003chr1:
114286380-114286380
AGintronicDe novo--Yuen2017 G
PHTF1     AU3638302chr1:
114242454-114242454
CAintronicDe novo--Yuen2017 G
PHTF1     1-0139-003chr1:
114299532-114299532
GAintronicDe 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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