Variant Results

or

or

Results for "MFSD12"

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
MFSD12	1-0447-003	chr19: 3559028-3559045	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	intergenic		De novo					-	-	Yuen2017 G
MFSD12	1912_15au	chr19: 3546090-3546090	T	C	exonic		De novo	nonsynonymous SNV	NM_001287529 NM_174983	c.A1244G c.A1271G	p.Q415R p.Q424R	22.5	-	Fu2022 E
MFSD12	AU073003	chr19: 3557387-3557387	G	A	exonic		De novo	synonymous SNV	NM_001287529 NM_174983	c.C15T c.C15T	p.P5P p.P5P	-	-	Yuen2017 G
MFSD12	DEASD_0046_001	chr19: 3547469-3547469	G	A	exonic		De novo	nonsynonymous SNV	NM_001287529 NM_174983	c.C887T c.C914T	p.S296L p.S305L	27.2	7.794E-5	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
MFSD12	SSC06114	chr19: 3546431-3546431	G	A	intronic		De novo					-	-	Fu2022 E
MFSD12	12739.p1	chr19: 3546431-3546431	G	A	intronic		De novo					-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
MFSD12	AU024104	chr19: 3556055-3556062	CAGATAGA	CAGA	intronic		De novo					-	-	Yuen2017 G
MFSD12	iHART3050	chr19: 3551139-3551140	AG	A	exonic		Maternal	frameshift deletion	NM_001287529 NM_174983	c.324delC c.351delC	p.G108fs p.G117fs	-	3.603E-5	Ruzzo2019 G
MFSD12	iHART3051	chr19: 3551139-3551140	AG	A	exonic		Maternal	frameshift deletion	NM_001287529 NM_174983	c.324delC c.351delC	p.G108fs p.G117fs	-	3.603E-5	Ruzzo2019 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More