Variant Results

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Results for "DGKH"

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
DGKH	2-1696-003	chr13: 42624549-42624549	T	A	intronic		De novo					-	-	Yuen2017 G
DGKH	3-0134-000	chr13: 42780568-42780568	T	C	intronic		De novo					-	-	Yuen2017 G
DGKH	A13	chr13: 42800795-42800795	G	T	intronic		De novo					-	-	Wu2018 G
DGKH	AU054304	chr13: 42833475-42833475	G	A	intergenic		De novo					-	-	Yuen2017 G
DGKH	5-0123-003	chr13: 42775824-42775824	A	C	intronic		De novo					-	-	Yuen2017 G
DGKH	04HI3433A	chr13: 42739491-42739491	T	C	exonic		De novo	nonsynonymous SNV	NM_001297429 NM_001204505 NM_001204506 NM_152910 NM_178009 NM_001204504	c.T145C c.T472C c.T472C c.T880C c.T880C c.T880C	p.Y49H p.Y158H p.Y158H p.Y294H p.Y294H p.Y294H	12.59	-	Satterstrom2020 E
DGKH	iHART2366	chr13: 42773953-42773953	C	T	exonic		Paternal	stopgain	NM_001297429 NM_001204505 NM_001204506 NM_152910 NM_178009 NM_001204504	c.C1666T c.C1993T c.C1993T c.C2401T c.C2401T c.C2401T	p.R556X p.R665X p.R665X p.R801X p.R801X p.R801X	40.0	2.508E-5	Ruzzo2019 G
DGKH	11671.p1	chr13: 42780220-42780220	G	C	exonic		Mosaic Mat.	nonsynonymous SNV	NM_001297429 NM_001204505 NM_001204506 NM_152910 NM_178009 NM_001204504	c.G1804C c.G2131C c.G2131C c.G2539C c.G2539C c.G2539C	p.V602L p.V711L p.V711L p.V847L p.V847L p.V847L	25.1	-	Dou2017 E
DGKH	iHART2546	chr13: 42769123-42769124	CT	C	exonic		Maternal	frameshift deletion	NM_001297429 NM_001204505 NM_001204506 NM_152910 NM_178009 NM_001204504	c.1404delT c.1731delT c.1731delT c.2139delT c.2139delT c.2139delT	p.P468fs p.P577fs p.P577fs p.P713fs p.P713fs p.P713fs	-	-	Ruzzo2019 G
DGKH	5-0106-003	chr13: 42633408-42633408	C	T	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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