Variant Results

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Results for "HARS2"

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
HARS2	12953.p1	chr5: 140076709-140076710	CG	C	intronic		De novo					-	-	Dong2014 E Kosmicki2017 E Satterstrom2020 E
HARS2	mAGRE6071	chr5: 140076959-140076959	C	T	exonic		Maternal	stopgain	NM_001278732 NM_001278731 NM_012208	c.C733T c.C1090T c.C1165T	p.R245X p.R364X p.R389X	28.7	-	Cirnigliaro2023 G
HARS2	ASC_11383-1	chr5: 140075390-140075390	A	C	exonic		De novo	nonsynonymous SNV	NM_001278732 NM_001278731 NM_012208	c.A161C c.A518C c.A593C	p.E54A p.E173A p.E198A	25.0	-	Fu2022 E
HARS2	G01-GEA-219-HI	chr5: 140073913-140073913	C	T	intronic		De novo					-	3.307E-5	Satterstrom2020 E Trost2022 G
HARS2	G01_GEA539HI	chr5: 140071311-140071311	G	A	exonic		De novo	synonymous SNV	NM_001278731 NM_012208	c.G78A c.G78A	p.S26S p.S26S	-	-	Fu2022 E
HARS2	SSC06134	chr5: 140076709-140076710	CG	C	intronic		De novo					-	-	Trost2022 G
HARS2	SP0144489	chr5: 140075329-140075329	G	A	exonic		De novo	nonsynonymous SNV	NM_001278732 NM_001278731 NM_012208	c.G100A c.G457A c.G532A	p.D34N p.D153N p.D178N	34.0	-	Fu2022 E Trost2022 G Zhou2022 GE

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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