Variant Results

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Results for "HJURP"

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
HJURP	SP0077711	chr2: 234762488-234762488	A	G	splicing			splicing				13.26	-	Zhou2022 GE
HJURP	3-0466-000A	chr2: 234746818-234746818	C	T	intronic		De novo					-	-	Trost2022 G
HJURP	SP0046234	chr2: 234749852-234749852	G	C	exonic		De novo	nonsynonymous SNV	NM_001282963 NM_001282962 NM_018410	c.C1319G c.C1412G c.C1574G	p.P440R p.P471R p.P525R	13.1	-	Fu2022 E Trost2022 G Zhou2022 GE
HJURP	iHART1290	chr2: 234749260-234749262	TTC	T	exonic		Maternal	frameshift deletion	NM_001282963 NM_001282962 NM_018410	c.1909_1910del c.2002_2003del c.2164_2165del	p.E637fs p.E668fs p.E722fs	-	8.684E-5	Ruzzo2019 G
HJURP	AU3964302	chr2: 234766578-234766578	T	C	intergenic		De novo					-	-	Yuen2017 G
HJURP	AU012804	chr2: 234765898-234765898	T	C	intergenic		De novo					-	-	Yuen2017 G
HJURP	mAGRE6165	chr2: 234754421-234754422	AT	A	exonic		Paternal	frameshift deletion	NM_001282962 NM_018410	c.285delA c.447delA	p.K95fs p.K149fs	-	-	Cirnigliaro2023 G
HJURP	2-0323-003	chr2: 234749297-234749297	G	A	exonic		De novo	nonsynonymous SNV	NM_001282963 NM_001282962 NM_018410	c.C1874T c.C1967T c.C2129T	p.P625L p.P656L p.P710L	6.922	1.672E-5	Trost2022 G Yuen2015 G Yuen2017 G Zhou2022 GE
HJURP	AU3807302	chr2: 234754421-234754422	AT	A	exonic		Paternal	frameshift deletion	NM_001282962 NM_018410	c.285delA c.447delA	p.K95fs p.K149fs	-	-	Cirnigliaro2023 G
HJURP	mAGRE1290	chr2: 234749260-234749262	TTC	T	exonic		Maternal	frameshift deletion	NM_001282963 NM_001282962 NM_018410	c.1909_1910del c.2002_2003del c.2164_2165del	p.E637fs p.E668fs p.E722fs	-	8.684E-5	Cirnigliaro2023 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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