Variant Results

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Results for "ZNF548"

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
ZNF548	SP0001491	chr19: 57908615-57908615	G	A	intronic		De novo					-	3.611E-5	Fu2022 E
ZNF548	Li2017:18924	chr19: 57911008-57911010	CAG	C	exonic		Unknown	frameshift deletion	NM_152909 NM_001172773	c.1354_1355del c.1390_1391del	p.R452fs p.R464fs	-	2.482E-5	Li2017 T
ZNF548	Li2017:17649	chr19: 57908465-57908465	G	A	exonic		Unknown	stopgain	NM_152909 NM_001172773	c.G65A c.G101A	p.W22X p.W34X	36.0	-	Li2017 T
ZNF548	A11051-2	chr19: 57911008-57911010	CAG	C	exonic		Unknown	frameshift deletion	NM_152909 NM_001172773	c.1354_1355del c.1390_1391del	p.R452fs p.R464fs	-	2.482E-5	Li2017 T
ZNF548	AU3399302	chr19: 57900769-57900769	C	T	upstream		De novo					-	-	Yuen2017 G
ZNF548	Li2017:42	chr19: 57911008-57911010	CAG	C	exonic		Unknown	frameshift deletion	NM_152909 NM_001172773	c.1354_1355del c.1390_1391del	p.R452fs p.R464fs	-	2.482E-5	Li2017 T
ZNF548	AU061003	chr19: 57915294-57915294	C	T	intergenic		De novo					-	-	Yuen2017 G
ZNF548	SP0000117	chr19: 57909941-57909941	A	ATT	exonic		De novo	frameshift insertion	NM_152909 NM_001172773	c.286_287insTT c.322_323insTT	p.I96fs p.I108fs	-	-	Feliciano2019 E Fu2022 E
ZNF548	A30	chr19: 57910972-57910974	TTG	T	exonic		De novo	frameshift deletion	NM_152909 NM_001172773	c.1318_1319del c.1354_1355del	p.W440fs p.W452fs	-	-	Wu2018 G
ZNF548	A25	chr19: 57910972-57910974	TTG	T	exonic		De novo	frameshift deletion	NM_152909 NM_001172773	c.1318_1319del c.1354_1355del	p.W440fs p.W452fs	-	-	Wu2018 G

Source Variant Information

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Paper Information

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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.
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