Variant Results

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Results for "HOXA1"

Variant Events: 10

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
HOXA1	Schaaf2011:32	chr7: 27135297-27135297	T	C	exonic		Unknown	nonsynonymous SNV	NM_005522 NM_153620	c.A235G c.A235G	p.T79A p.T79A	10.06	1.65E-5	Schaaf2011 T
HOXA1	Schaaf2011:96	chr7: 27135338-27135338	T	TTGGTGG	exonic		Unknown	nonframeshift insertion	NM_005522 NM_153620	c.193_194insCCACCA c.193_194insCCACCA	p.H65delinsPTN p.H65delinsPTN	-	-	Schaaf2011 T
HOXA1	Schaaf2011:33	chr7: 27135349-27135349	G	C	exonic		De novo	nonsynonymous SNV	NM_005522 NM_153620	c.C183G c.C183G	p.I61M p.I61M	4.002	1.667E-5	Schaaf2011 T
HOXA1	Schaaf2011:97	chr7: 27135337-27135342	GTGGGG	G	exonic		Unknown	frameshift deletion	NM_005522 NM_153620	c.190_194del c.190_194del	p.P64fs p.P64fs	-	-	Schaaf2011 T
HOXA1	Schaaf2011:102	chr7: 27134097-27134098	CC	C	exonic		Unknown	frameshift deletion	NM_005522	c.969delG	p.P323fs	-	-	Schaaf2011 T
HOXA1	Schaaf2011:100	chr7: 27135331-27135340	GTGGTGGTGG	G	exonic		Unknown	nonframeshift deletion	NM_005522 NM_153620	c.192_200del c.192_200del	p.64_67del p.64_67del	-	-	Schaaf2011 T
HOXA1	AU4235301	chr7: 27134376-27134376	C	T	exonic		De novo	nonsynonymous SNV	NM_005522	c.G691A	p.A231T	2.556	8.239E-6	Yuen2017 G
HOXA1	Schaaf2011:94	chr7: 27135337-27135340	GTGG	G	exonic		De novo	nonframeshift deletion	NM_005522 NM_153620	c.192_194del c.192_194del	p.64_65del p.64_65del	-	-	Schaaf2011 T
HOXA1	Schaaf2011:31	chr7: 27135147-27135147	C	A	exonic		Unknown	nonsynonymous SNV	NM_005522	c.G385T	p.A129S	8.993	4.943E-5	Schaaf2011 T
HOXA1	Schaaf2011:95	chr7: 27135338-27135338	T	TTGG	exonic		Unknown	nonframeshift insertion	NM_005522 NM_153620	c.193_194insCCA c.193_194insCCA	p.H65delinsPN p.H65delinsPN	-	-	Schaaf2011 T

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Paper Information

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