Variant Results

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Results for "PRAME"

Variant Events: 4

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
PRAME	AU158A	chr22: 22892470-22892470	T	C	exonic		De novo	nonsynonymous SNV	NM_001291719 NM_001291715 NM_001291716 NM_001291717 NM_206953 NM_006115 NM_206954 NM_206955 NM_206956	c.A583G c.A631G c.A631G c.A583G c.A631G c.A631G c.A631G c.A631G c.A631G	p.K195E p.K211E p.K211E p.K195E p.K211E p.K211E p.K211E p.K211E p.K211E	13.86	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
PRAME	74-0752	chr22: 22893497-22893497	G	C	exonic		Inherited	nonsynonymous SNV	NM_001291715 NM_001291716 NM_206953 NM_006115 NM_206954 NM_206955 NM_206956	c.C36G c.C36G c.C36G c.C36G c.C36G c.C36G c.C36G	p.S12R p.S12R p.S12R p.S12R p.S12R p.S12R p.S12R	6.266	2.0E-4	Patowary2019 E
PRAME	AU050403	chr22: 22895330-22895330	T	G	intronic		De novo					-	-	Yuen2017 G
PRAME	AU063005	chr22: 22893946-22893946	G	A	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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