Variant Results

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Results for "SLC39A5"

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
SLC39A5	DEASD_1031_001	chr12: 56626540-56626540	G	A	exonic		De novo	nonsynonymous SNV	NM_001135195 NM_173596	c.G355A c.G355A	p.D119N p.D119N	18.24	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
SLC39A5	iHART2239	chr12: 56630932-56630932	A	T	splicing		Maternal	splicing				21.0	-	Ruzzo2019 G
SLC39A5	09C100237	chr12: 56629024-56629024	C	T	exonic		De novo	nonsynonymous SNV	NM_001135195 NM_173596	c.C718T c.C718T	p.R240C p.R240C	13.07	1.777E-5	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Neale2012 E Satterstrom2020 E Trost2022 G Zhou2022 GE
SLC39A5	iHART2237	chr12: 56630932-56630932	A	T	splicing		Maternal	splicing				21.0	-	Ruzzo2019 G
SLC39A5	mAGRE2239	chr12: 56630932-56630932	A	T	splicing		Maternal	splicing				21.0	-	Cirnigliaro2023 G
SLC39A5	mAGRE2237	chr12: 56630932-56630932	A	T	splicing		Maternal	splicing				21.0	-	Cirnigliaro2023 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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