Variant Results

or

or

Results for "SLC2A14"

Variant Events: 10

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
SLC2A14	13608.p1	chr12: 7970433-7970433	A	G	exonic		Mosaic	synonymous SNV	NM_001286236 NM_001286237 NM_001286234 NM_153449 NM_001286235 NM_001286233	c.T1011C c.T1383C c.T1269C c.T1338C c.T1269C c.T1338C	p.S337S p.S461S p.S423S p.S446S p.S423S p.S446S	-	3.0E-4	Krupp2017 E
SLC2A14	2-1437-004	chr12: 8044327-8044327	T	C	upstream		De novo					-	-	Yuen2017 G
SLC2A14	2-0145-004	chr12: 7982529-7982529	C	T	exonic		De novo	nonsynonymous SNV	NM_001286236 NM_001286237 NM_001286234 NM_153449 NM_001286235 NM_001286233	c.G88A c.G460A c.G346A c.G415A c.G346A c.G415A	p.E30K p.E154K p.E116K p.E139K p.E116K p.E139K	0.048	-	Yuen2017 G
SLC2A14	14416.p1	chr12: 7996557-7996562	GTCTTT	G	intronic		Paternal					-	-	Wilfert2021 G
SLC2A14	1-0169-003	chr12: 8033818-8033818	C	T	intronic		De novo					-	-	Yuen2017 G
SLC2A14	5-0021-003	chr12: 7969993-7969993	G	A	intronic		De novo					-	-	Yuen2017 G
SLC2A14	2-1510-003	chr12: 8067517-8067517	G	A	intergenic		De novo					-	-	Yuen2017 G
SLC2A14	AU4033304	chr12: 7985933-7985933	T	C	intronic		De novo					-	-	Yuen2017 G
SLC2A14	7902-03-003	chr12: 7981319-7981319	T	C	exonic		De novo	synonymous SNV	NM_001286236 NM_001286237 NM_001286234 NM_153449 NM_001286235 NM_001286233	c.A399G c.A771G c.A657G c.A726G c.A657G c.A726G	p.K133K p.K257K p.K219K p.K242K p.K219K p.K242K	-	-	Satterstrom2020 E
SLC2A14	1-0186-004	chr12: 7985898-7985898	G	T	intronic		De novo					-	-	Yuen2017 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