Variant Results

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Results for "PCOLCE"

Variant Events: 6

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
PCOLCE	SSC06969	chr7: 100201679-100201680	CT	C	exonic		De novo	frameshift deletion	NM_002593	c.303delT	p.S101fs	-	-	Fu2022 E
PCOLCE	212-21015-1	chr7: 100205414-100205421	CCCCCCCA	CCCCCCCCA	exonic		Paternal	frameshift insertion	NM_002593	c.1167dupC	p.C389fs	-	2.0E-4	Stessman2017 T
PCOLCE	13018.p1	Complex Event; expand row to view variants					De novo	frameshift deletion	NM_002593 NM_002593	c.303delT c.304delG	p.S101fs p.G102fs	-	-	Dong2014 E Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Willsey2013 E
PCOLCE	GX0046.p1	chr7: 100203407-100203407	G	A	exonic		Paternal	nonsynonymous SNV	NM_002593	c.G697A	p.G233R	34.0	5.175E-5	Guo2018 T
PCOLCE	SP0052416	chr7: 100203512-100203512	T	G	intronic		De novo					-	-	Fu2022 E
PCOLCE	80001103278	chr7: 100202048-100202048	C	T	intronic		De novo					-	-	Fu2022 E Satterstrom2020 E

Source Variant Information

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Paper Information

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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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