Variant Results

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Results for "Hiatt2019"

Variant Events: 8

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
BRSK2	Hiatt2019:7	chr11: 1471923-1471925	CGT	C	exonic		De novo	frameshift deletion	NM_001256627 NM_001256629 NM_001256630 NM_001282218 NM_003957	c.1395_1396del c.1395_1396del c.1533_1534del c.1215_1216del c.1395_1396del	p.P465fs p.P465fs p.P511fs p.P405fs p.P465fs	-	-	Hiatt2019 T
BRSK2	Hiatt2019:6	chr11: 1471059-1471071	GCCCCCGGGTGAG	G	exonic		De novo	frameshift deletion	NM_001256627 NM_001256629 NM_001256630 NM_001282218 NM_003957	c.1281_1287del c.1281_1287del c.1419_1425del c.1101_1107del c.1281_1287del	p.S427fs p.S427fs p.S473fs p.S367fs p.S427fs	-	-	Hiatt2019 T
BRSK2	Hiatt2019:9	chr11: 1477839-1477839	C	T	exonic		De novo	nonsynonymous SNV	NM_001256627 NM_001256629 NM_001256630 NM_001282218 NM_003957	c.C1861T c.C1861T c.C1999T c.C1681T c.C1861T	p.R621C p.R621C p.R667C p.R561C p.R621C	17.43	-	Hiatt2019 T
BRSK2	Hiatt2019:8	chr11: 1472634-1472636	CAG	C	exonic		De novo	frameshift deletion	NM_001256627 NM_001256629 NM_001256630 NM_001282218 NM_003957	c.1530_1531del c.1530_1531del c.1668_1669del c.1350_1351del c.1530_1531del	p.P510fs p.P510fs p.P556fs p.P450fs p.P510fs	-	-	Hiatt2019 T
BRSK2	Hiatt2019:3	chr11: 1463837-1463837	G	A	splicing		De novo	splicing				13.66	-	Hiatt2019 T
BRSK2	Hiatt2019:2	chr11: 1462017-1462017	G	A	splicing		De novo	splicing				10.3	-	Hiatt2019 T
BRSK2	Hiatt2019:5	chr11: 1464815-1464815	C	T	exonic		De novo	stopgain	NM_001256627 NM_001256629 NM_001256630 NM_001282218 NM_003957	c.C730T c.C730T c.C868T c.C550T c.C730T	p.Q244X p.Q244X p.Q290X p.Q184X p.Q244X	38.0	-	Hiatt2019 T
BRSK2	Hiatt2019:4	chr11: 1464720-1464720	G	A	exonic		De novo	nonsynonymous SNV	NM_001256627 NM_001256629 NM_001256630 NM_001282218 NM_003957	c.G635A c.G635A c.G773A c.G455A c.G635A	p.G212E p.G212E p.G258E p.G152E p.G212E	22.6	-	Hiatt2019 T

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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