Variant Results

or

or

Results for "FAM102B"

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
FAM102B	mAGRE2291	chr1: 109177771-109177771	A	AG	exonic		Paternal	frameshift insertion	NM_001010883	c.1083dupG	p.X361delinsX	-	3.295E-5	Cirnigliaro2023 G
FAM102B	4-0062-003	chr1: 109140173-109140174	GT	TC	intronic		De novo					-	-	Trost2022 G
FAM102B	iHART2291	chr1: 109177771-109177771	A	AG	exonic		Paternal	frameshift insertion	NM_001010883	c.1083dupG	p.X361delinsX	-	3.295E-5	Ruzzo2019 G
FAM102B	3-0109-000	chr1: 109157927-109157927	A	G	intronic		De novo					-	-	Trost2022 G
FAM102B	SP0078543	chr1: 109148908-109148909	TG	T	intronic		De novo					-	-	Fu2022 E
FAM102B	SSC08881	chr1: 109177766-109177766	A	G	exonic		Mosaic	synonymous SNV	NM_001010883	c.A1077G	p.K359K	-	-	Lim2017 E
FAM102B	13758.p1	chr1: 109177766-109177766	A	G	exonic		Mosaic, De novo	synonymous SNV	NM_001010883	c.A1077G	p.K359K	-	-	Krumm2015 E Krupp2017 E
FAM102B	12341.p1	chr1: 109167412-109167412	C	T	intronic		Mosaic					-	2.517E-5	Dou2017 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