Variant Results

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Results for "MSLN"

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
MSLN	SP0092688	chr16: 817494-817509	GTGTGGAGGAGGGGCC	G	intronic		De novo					-	2.525E-5	Fu2022 E
MSLN	SP0113448	chr16: 814922-814922	G	A	exonic		De novo	synonymous SNV	NM_013404 NM_001177355 NM_005823	c.G396A c.G396A c.G396A	p.S132S p.S132S p.S132S	-	2.799E-5	Fu2022 E Trost2022 G Zhou2022 GE
MSLN	mAGRE5192	chr16: 813692-813692	G	A	splicing		Unknown	splicing				7.706	2.0E-4	Cirnigliaro2023 G
MSLN	mAGRE2239	chr16: 812699-812699	C	T	exonic		Maternal	stopgain	NM_013404 NM_001177355 NM_005823	c.C19T c.C19T c.C19T	p.R7X p.R7X p.R7X	17.62	2.0E-4	Cirnigliaro2023 G
MSLN	Codina-Sola2015:ASD_9	chr16: 816166-816166	C	T	exonic		Paternal	stopgain	NM_013404 NM_001177355 NM_005823	c.C1003T c.C1003T c.C1003T	p.Q335X p.Q335X p.Q335X	15.27	-	Codina-Sola2015 E
MSLN	SP0115411	chr16: 817495-817495	T	C	intronic		De novo					-	2.0E-4	Trost2022 G
MSLN	iHART2239	chr16: 812699-812699	C	T	exonic		Maternal	stopgain	NM_013404 NM_001177355 NM_005823	c.C19T c.C19T c.C19T	p.R7X p.R7X p.R7X	17.62	2.0E-4	Ruzzo2019 G
MSLN	1-0763-003	chr16: 810475-810475	C	T	upstream		De novo					-	-	Trost2022 G
MSLN	SP0041922	Complex Event; expand row to view variants					De novo	nonsynonymous SNV, synonymous SNV	NM_013404 NM_001177355 NM_005823 NM_013404 NM_001177355 NM_005823	c.G346T c.G346T c.G346T c.G345C c.G345C c.G345C	p.D116Y p.D116Y p.D116Y p.L115L p.L115L p.L115L	8.485	-	Trost2022 G Trost2022 G

Source Variant Information

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Paper Information

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