Variant Results

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Results for "STOML2"

Variant Events: 4

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
STOML2	AU1742302	chr9: 35100252-35100252	T	G	intronic		De novo					-	-	Yuen2017 G
STOML2	SP0097396	chr9: 35101515-35101515	G	C	exonic		De novo	nonsynonymous SNV	NM_001287033 NM_001287032 NM_013442	c.C349G c.C334G c.C487G	p.Q117E p.Q112E p.Q163E	6.851	-	Fu2022 E
STOML2	3-0318-000	chr9: 35101724-35101724	G	A	exonic		De novo	synonymous SNV	NM_001287033 NM_001287031 NM_001287032 NM_013442	c.C289T c.C427T c.C274T c.C427T	p.L97L p.L143L p.L92L p.L143L	-	-	Tammimies2015 E
STOML2	ASC_CA_136_A	chr9: 35100858-35100858	C	T	intronic		De novo					-	-	Satterstrom2020 E

Source Variant Information

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Paper Information

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