Variant Results

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Results for "LMNA"

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
LMNA	74-0075	chr1: 156055317-156055317	A	G	intronic		De novo					-	-	Michaelson2012 G
LMNA	A13	chr1: 156053306-156053306	A	G	intronic		De novo					-	-	Wu2018 G
LMNA	21304-33563	chr1: 156105105-156105105	T	C	splicing			splicing				18.77	-	Callaghan2019 G
LMNA	AU3782303	chr1: 156073907-156073907	T	C	intronic		De novo					-	-	Yuen2017 G
LMNA	AU4164301	chr1: 156059349-156059349	A	G	intronic		De novo					-	-	Yuen2017 G
LMNA	NDAR_INVEW902YT9_wes1	chr1: 156105767-156105767	C	T	exonic		De novo	synonymous SNV	NM_001257374 NM_001282626 NM_005572 NM_170707 NM_170708 NM_001282624 NM_001282625	c.C676T c.C1012T c.C1012T c.C1012T c.C1012T c.C769T c.C1012T	p.L226L p.L338L p.L338L p.L338L p.L338L p.L257L p.L338L	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
LMNA	AU007503	chr1: 156055317-156055317	A	G	intronic		De novo					-	-	Yuen2017 G
LMNA	AU073005	chr1: 156066647-156066647	G	T	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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.
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