Variant Results

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Results for "ESPNL"

Variant Events: 5

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
ESPNL	3-0094-000	chr2: 239040083-239040083	G	A	exonic		De novo	nonsynonymous SNV	NM_001308370 NM_194312	c.G1624A c.G2728A	p.A542T p.A910T	18.45	1.078E-5	Tammimies2015 E
ESPNL	AU3918302	chr2: 239029244-239029244	A	T	intronic		De novo					-	-	Yuen2017 G
ESPNL	SP0083577	chr2: 239009299-239009299	C	T	exonic		De novo	nonsynonymous SNV	NM_194312	c.C239T	p.T80M	10.92	3.0E-4	Fu2022 E
ESPNL	SP0146130	chr2: 239037622-239037622	C	T	intronic		De novo					-	-	Fu2022 E
ESPNL	iHART1544	chr2: 239016501-239016501	C	T	exonic		Paternal	stopgain	NM_194312	c.C742T	p.R248X	38.0	1.265E-5	Ruzzo2019 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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