Variant Results

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Results for "C6orf106"

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
C6orf106	1-0323-004	chr6: 34654239-34654239	C	T	intronic		De novo					-	-	Yuen2017 G
C6orf106	7-0067-003	chr6: 34661757-34661757	G	A	intronic		De novo					-	-	Yuen2017 G
C6orf106	AU1988301	chr6: 34657382-34657382	G	T	intronic		De novo					-	-	Yuen2017 G
C6orf106	SP0008157	chr6: 34622469-34622469	G	A	exonic		De novo	synonymous SNV	NM_022758 NM_024294	c.C246T c.C246T	p.T82T p.T82T	-	-	Fu2022 E
C6orf106	14370.p1	chr6: 34626837-34626837	T	C	intronic		De novo					-	-	Turner2016 G
C6orf106	AU0638302	chr6: 34694398-34694421	TTTTCTTTCTTTCTTTCTTTCTTT	TTTTCTTTCTTTCTTTCTTT	intergenic		De novo					-	-	Yuen2017 G
C6orf106	1-0862-003	chr6: 34569228-34569228	T	C	intronic		De novo					-	-	Yuen2017 G
C6orf106	AU4273304	chr6: 34573475-34573475	C	A	intronic		De novo					-	-	Yuen2017 G
C6orf106	SP0009874	chr6: 34574337-34574338	TG	T	exonic		De novo	stopgain	NM_022758 NM_024294	c.657delC c.855delC	p.Y219X p.Y285X	-	-	Feliciano2019 E Fu2022 E

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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