Variant Results

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Results for "SLC34A3"

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
SLC34A3	150561	chr9: 140128528-140128528	G	C	intronic		De novo					-	-	Satterstrom2020 E
SLC34A3	Lim2017:5431	chr9: 140127091-140127091	C	T	exonic		De novo	synonymous SNV	NM_001177316 NM_001177317 NM_080877	c.C240T c.C240T c.C240T	p.L80L p.L80L p.L80L	-	1.686E-5	Lim2017 E
SLC34A3	iHART3144	chr9: 140129151-140129152	AG	A	exonic		Paternal	frameshift deletion	NM_001177316 NM_001177317 NM_080877	c.1304delG c.1304delG c.1304delG	p.S435fs p.S435fs p.S435fs	-	4.0E-4	Ruzzo2019 G
SLC34A3	iHART1686	chr9: 140128724-140128734	TGCGGGTGAGG	T	exonic		Paternal	frameshift deletion	NM_001177316 NM_001177317 NM_080877	c.1090_1093del c.1090_1093del c.1090_1093del	p.A364fs p.A364fs p.A364fs	-	-	Ruzzo2019 G
SLC34A3	11715.p1	chr9: 140127091-140127091	C	T	exonic		De novo	synonymous SNV	NM_001177316 NM_001177317 NM_080877	c.C240T c.C240T c.C240T	p.L80L p.L80L p.L80L	-	1.686E-5	Iossifov2014 E Kosmicki2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 G

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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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