Variant Results

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Results for "LHX1"

Variant Events: 5

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
LHX1	SP0118552	chr17: 35300282-35300282	C	A	exonic		De novo	nonsynonymous SNV	NM_005568	c.C1075A	p.P359T	20.1	-	Fu2022 E
LHX1	DEASD_0284_001	chr17: 35300433-35300433	G	A	UTR3		De novo					-	-	Kosmicki2017 E Satterstrom2020 E
LHX1	AU1196301	chr17: 35298026-35298026	G	C	exonic		Maternal	nonsynonymous SNV	NM_005568	c.G517C	p.D173H	33.0	-	Stessman2017 T
LHX1	1-0971-003	chr17: 35305157-35305157	G	A	intergenic		De novo					-	-	Yuen2017 G
LHX1	74-0752	chr17: 35300106-35300106	C	G	exonic		Inherited	nonsynonymous SNV	NM_005568	c.C899G	p.P300R	18.56	1.517E-5	Patowary2019 E

Source Variant Information

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Paper Information

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