Variant Results

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Results for "RARA"

Variant Events: 7

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
RARA	14108.p1	chr17: 38511626-38511626	C	T	exonic		De novo	nonsynonymous SNV	NM_001145302 NM_001024809 NM_000964 NM_001145301	c.C833T c.C1109T c.C1124T c.C1124T	p.P278L p.P370L p.P375L p.P375L	35.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Turner2017 G Wilfert2021 G
RARA	1-0067-005	chr17: 38485005-38485006	TC	T	intronic		De novo					-	-	Yuen2017 G
RARA	200701695@0159773112	chr17: 38512927-38512927	C	G	UTR3		De novo					17.28	-	Satterstrom2020 E
RARA	14108_p1	chr17: 38511626-38511626	C	T	exonic		De novo	nonsynonymous SNV	NM_001145302 NM_001024809 NM_000964 NM_001145301	c.C833T c.C1109T c.C1124T c.C1124T	p.P278L p.P370L p.P375L p.P375L	35.0	-	Fu2022 E
RARA	ASC_11164-1	chr17: 38512356-38512356	C	G	exonic		De novo	nonsynonymous SNV	NM_001145302 NM_001024809 NM_000964 NM_001145301	c.C976G c.C1252G c.C1267G c.C1267G	p.L326V p.L418V p.L423V p.L423V	11.12	-	Fu2022 E
RARA	SSC10749	chr17: 38511626-38511626	C	T	exonic			nonsynonymous SNV	NM_001145302 NM_001024809 NM_000964 NM_001145301	c.C833T c.C1109T c.C1124T c.C1124T	p.P278L p.P370L p.P375L p.P375L	35.0	-	Antaki2022 GE
RARA	AU073005	chr17: 38504619-38504619	C	T	exonic		De novo	nonsynonymous SNV	NM_001024809 NM_000964 NM_001145301	c.C215T c.C230T c.C230T	p.S72L p.S77L p.S77L	21.6	-	Yuen2017 G

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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