Variant Results

or

or

Results for "TBC1D24"

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
TBC1D24	AU3782302	chr16: 2546281-2546281	G	A	exonic		Paternal	stopgain	NM_001199107 NM_020705	c.G132A c.G132A	p.W44X p.W44X	32.0	8.342E-6	Cirnigliaro2023 G
TBC1D24	13543.p1	chr16: 2556479-2556479	C	T	downstream		De novo					-	-	Turner2016 G
TBC1D24	AU2463301	chr16: 2541020-2541020	C	T	intronic		De novo					-	-	Trost2022 G
TBC1D24	12638.p1	chr16: 2546400-2546400	A	C	exonic		De novo	nonsynonymous SNV	NM_001199107 NM_020705	c.A251C c.A251C	p.K84T p.K84T	16.07	-	Ji2016 E Krumm2015 E
TBC1D24	MSSNG00094-003	chr16: 2534093-2534093	G	A	intronic		De novo					-	-	Trost2022 G
TBC1D24	G01_GEA525HI	chr16: 2549730-2549730	T	C	intronic		De novo					-	-	Fu2022 E
TBC1D24	SP0026358	chr16: 2548393-2548393	G	A	exonic		De novo	nonsynonymous SNV	NM_020705 NM_001199107	c.G1120A c.G1138A	p.A374T p.A380T	1.47	-	Fu2022 E Trost2022 G Zhou2022 GE
TBC1D24	2-1169-003	chr16: 2524344-2524344	G	A	downstream;upstream		De novo					-	-	Trost2022 G Yuen2017 G

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