Variant Results

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Results for "HTR5A"

Variant Events: 10

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
HTR5A	M20758	chr7: 154862767-154862767	C	T	exonic		Maternal	nonsynonymous SNV	NM_024012	c.C158T	p.A53V	34.0	-	Guo2018 T Wang2016 T
HTR5A	G01-GEA-307_HI	chr7: 154863343-154863343	C	T	exonic		De novo	nonsynonymous SNV	NM_024012	c.C734T	p.A245V	2.871	-	Fu2022 E Satterstrom2020 E
HTR5A	7-0123-003	chr7: 154923361-154923361	C	A	intergenic		De novo					-	-	Yuen2017 G
HTR5A	3-0503-000	chr7: 154876164-154876164	C	A	exonic		De novo	nonsynonymous SNV	NM_024012	c.C1041A	p.S347R	15.69	-	Tammimies2015 E
HTR5A	AU1223301	chr7: 155020353-155020353	G	A	intergenic		De novo					-	-	Yuen2017 G
HTR5A	1-0458-005	chr7: 154997836-154997836	G	GT	intergenic		De novo					-	-	Yuen2017 G
HTR5A	2-0198-003	chr7: 155023866-155023866	C	T	intergenic		De novo					-	-	Yuen2017 G
HTR5A	AU2293301	chr7: 155059860-155059860	G	T	intergenic		De novo					-	-	Yuen2017 G
HTR5A	08C78163	chr7: 154862994-154862994	A	G	exonic		De novo	nonsynonymous SNV	NM_024012	c.A385G	p.I129V	22.7	-	Fu2022 E Satterstrom2020 E
HTR5A	AU076509	chr7: 154993212-154993212	G	A	intergenic		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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