Variant Results

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Results for "SLC20A2"

Variant Events: 9

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
SLC20A2	2-1342-003	chr8: 42276767-42276767	C	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
SLC20A2	1-0141-003	chr8: 42369585-42369585	T	TTA	intronic		De novo					-	-	Yuen2017 G
SLC20A2	2-1235-004	chr8: 42290297-42290301	TGCTA	T	intronic		De novo					-	-	Yuen2017 G
SLC20A2	SP0084185	chr8: 42297133-42297133	C	T	exonic		De novo	nonsynonymous SNV	NM_001257180 NM_001257181 NM_006749	c.G769A c.G769A c.G769A	p.D257N p.D257N p.D257N	12.17	-	Fu2022 E
SLC20A2	2-1250-003	chr8: 42369585-42369585	T	TTA	intronic		De novo					-	-	Yuen2017 G
SLC20A2	3-0410-000	chr8: 42287662-42287662	T	C	exonic		De novo	synonymous SNV	NM_001257180 NM_001257181 NM_006749	c.A1629G c.A1629G c.A1629G	p.G543G p.G543G p.G543G	-	-	Tammimies2015 E
SLC20A2	5-0110-003	chr8: 42293713-42293713	T	G	intronic		De novo					-	-	Yuen2017 G
SLC20A2	11959.p1	chr8: 42287733-42287733	T	C	exonic		De novo	nonsynonymous SNV	NM_001257180 NM_001257181 NM_006749	c.A1558G c.A1558G c.A1558G	p.I520V p.I520V p.I520V	9.701	5.951E-5	Satterstrom2020 E
SLC20A2	7-0024-003	chr8: 42388031-42388031	C	A	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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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