Variant Results

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Results for "SLC26A5"

Variant Events: 6

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
SLC26A5	7-0055-003	chr7: 103050837-103050837	C	A	exonic		De novo	nonsynonymous SNV	NM_001167962 NM_198999 NM_206883 NM_206884 NM_206885	c.G730T c.G730T c.G730T c.G730T c.G730T	p.V244L p.V244L p.V244L p.V244L p.V244L	14.54	-	Yuen2017 G
SLC26A5	08C75209	chr7: 103061175-103061175	A	T	intronic		De novo					-	-	Satterstrom2020 E
SLC26A5	AU049304	chr7: 103042511-103042511	G	A	intronic		De novo					-	-	Yuen2017 G
SLC26A5	11336_p1	chr7: 103014942-103014942	G	C	exonic		De novo	nonsynonymous SNV	NM_001167962 NM_198999	c.C2043G c.C2139G	p.S681R p.S713R	11.38	-	Fu2022 E
SLC26A5	SP0017106	chr7: 103014907-103014907	G	A	exonic		De novo	nonsynonymous SNV	NM_001167962 NM_198999	c.C2078T c.C2174T	p.S693L p.S725L	12.29	8.247E-6	Feliciano2019 E Fu2022 E
SLC26A5	11336.p1	chr7: 103014942-103014942	G	C	exonic		De novo	nonsynonymous SNV	NM_001167962 NM_198999	c.C2043G c.C2139G	p.S681R p.S713R	11.38	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Sanders2012 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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