Variant Results

or

or

Results for "PHTF1"

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
PHTF1	AU011021	chr1: 114262564-114262564	C	T	intronic		De novo					-	-	Yuen2017 G
PHTF1	iHART1145	chr1: 114243565-114243565	G	A	exonic		Maternal	stopgain	NM_006608	c.C1897T	p.Q633X	41.0	2.0E-4	Ruzzo2019 G
PHTF1	iHART1146	chr1: 114243565-114243565	G	A	exonic		Maternal	stopgain	NM_006608	c.C1897T	p.Q633X	41.0	2.0E-4	Ruzzo2019 G
PHTF1	TRE_2572	chr1: 114269049-114269049	C	T	exonic		De novo	nonsynonymous SNV	NM_006608	c.G479A	p.R160Q	15.62	-	Fu2022 E
PHTF1	1-0214-003	chr1: 114286380-114286380	A	G	intronic		De novo					-	-	Yuen2017 G
PHTF1	AU3638302	chr1: 114242454-114242454	C	A	intronic		De novo					-	-	Yuen2017 G
PHTF1	608968451511-C3	chr1: 114255874-114255874	C	T	intronic		De novo					-	1.649E-5	Fu2022 E
PHTF1	1-0139-003	chr1: 114299532-114299532	G	A	intronic		De novo					-	-	Yuen2017 G
PHTF1	AU4013302	chr1: 114289097-114289097	C	T	intronic		De novo					-	-	Yuen2017 G
PHTF1	PN400539	chr1: 114246774-114246774	G	A	exonic		De novo	nonsynonymous SNV	NM_006608	c.C1819T	p.R607C	17.04	-	Leblond2019 E

Source Variant Information

, -

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 notes	View
	More