Variant Results

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Results for "OS9"

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
OS9	iHART3230	chr12: 58111706-58111706	C	T	exonic		Paternal	stopgain	NM_001261421 NM_001261422 NM_001261423 NM_001017956 NM_001017957 NM_001017958 NM_001261420 NM_006812	c.C1003T c.C943T c.C922T c.C1099T c.C1099T c.C1099T c.C1102T c.C1099T	p.R335X p.R315X p.R308X p.R367X p.R367X p.R367X p.R368X p.R367X	26.4	-	Ruzzo2019 G
OS9	iHART3227	chr12: 58111706-58111706	C	T	exonic		Paternal	stopgain	NM_001261421 NM_001261422 NM_001261423 NM_001017956 NM_001017957 NM_001017958 NM_001261420 NM_006812	c.C1003T c.C943T c.C922T c.C1099T c.C1099T c.C1099T c.C1102T c.C1099T	p.R335X p.R315X p.R308X p.R367X p.R367X p.R367X p.R368X p.R367X	26.4	-	Ruzzo2019 G
OS9	REACH000145	chr12: 58096880-58096880	C	T	intronic		De novo					-	-	Trost2022 G
OS9	AU3912302	chr12: 58111706-58111706	C	T	exonic		Paternal	stopgain	NM_001261421 NM_001261422 NM_001261423 NM_001017956 NM_001017957 NM_001017958 NM_001261420 NM_006812	c.C1003T c.C943T c.C922T c.C1099T c.C1099T c.C1099T c.C1102T c.C1099T	p.R335X p.R315X p.R308X p.R367X p.R367X p.R367X p.R368X p.R367X	26.4	-	Cirnigliaro2023 G
OS9	08C77595	chr12: 58114545-58114545	C	T	intronic		De novo					-	-	Kosmicki2017 E Satterstrom2020 E Trost2022 G
OS9	GEA440	chr12: 58114631-58114631	G	A	exonic		De novo	nonsynonymous SNV	NM_001261421 NM_001261422 NM_001261423 NM_001017956 NM_001017957 NM_001261420 NM_001017958 NM_006812	c.G1682A c.G1622A c.G1556A c.G1778A c.G1733A c.G1781A c.G1898A c.G1943A	p.R561H p.R541H p.R519H p.R593H p.R578H p.R594H p.R633H p.R648H	20.8	2.49E-5	Fu2022 E
OS9	SP0087266	chr12: 58112804-58112807	TGAA	T	exonic		De novo	nonframeshift deletion	NM_001261421 NM_001261422 NM_001261423 NM_001017956 NM_001017957 NM_001017958 NM_001261420 NM_006812	c.1344_1346del c.1284_1286del c.1218_1220del c.1440_1442del c.1395_1397del c.1395_1397del c.1443_1445del c.1440_1442del	p.448_449del p.428_429del p.406_407del p.480_481del p.465_466del p.465_466del p.481_482del p.480_481del	-	2.0E-4	Trost2022 G Zhou2022 GE
OS9	1-0286-004	chr12: 58112146-58112146	G	A	exonic		De novo	nonsynonymous SNV	NM_001261421 NM_001261422 NM_001261423 NM_001017956 NM_001017957 NM_001017958 NM_001261420 NM_006812	c.G1256A c.G1196A c.G1175A c.G1352A c.G1352A c.G1352A c.G1355A c.G1352A	p.R419Q p.R399Q p.R392Q p.R451Q p.R451Q p.R451Q p.R452Q p.R451Q	18.52	8.25E-6	Trost2022 G Yuen2015 G Yuen2017 G Zhou2022 GE
OS9	AU3912303	chr12: 58111706-58111706	C	T	exonic		Paternal	stopgain	NM_001261421 NM_001261422 NM_001261423 NM_001017956 NM_001017957 NM_001017958 NM_001261420 NM_006812	c.C1003T c.C943T c.C922T c.C1099T c.C1099T c.C1099T c.C1102T c.C1099T	p.R335X p.R315X p.R308X p.R367X p.R367X p.R367X p.R368X p.R367X	26.4	-	Cirnigliaro2023 G

Source Variant Information

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Paper Information

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