Variant Results

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Results for "SERPINA9"

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
SERPINA9	12363.p1	chr14: 94933406-94933406	C	T	intronic		De novo					-	-	Satterstrom2020 E
SERPINA9	AU2320301	chr14: 94942258-94942258	T	G	intronic		De novo					-	-	Trost2022 G
SERPINA9	iHART2424	chr14: 94935677-94935678	GT	G	exonic		Paternal	frameshift deletion	NM_001284275 NM_175739 NM_001284276	c.446delA c.554delA c.107delA	p.N149fs p.N185fs p.N36fs	-	6.624E-5	Ruzzo2019 G
SERPINA9	SP0121956	chr14: 94935882-94935882	C	G	exonic		De novo	nonsynonymous SNV	NM_001284275 NM_175739	c.G242C c.G350C	p.G81A p.G117A	14.95	-	Fu2022 E Trost2022 G Zhou2022 GE
SERPINA9	SP0072352	chr14: 94935979-94935979	T	C	exonic		De novo	nonsynonymous SNV	NM_001042518 NM_001284275 NM_175739	c.A253G c.A145G c.A253G	p.N85D p.N49D p.N85D	7.329	-	Fu2022 E Trost2022 G Zhou2022 GE
SERPINA9	mAGRE2424	chr14: 94935677-94935678	GT	G	exonic		Paternal	frameshift deletion	NM_001284275 NM_175739 NM_001284276	c.446delA c.554delA c.107delA	p.N149fs p.N185fs p.N36fs	-	6.624E-5	Cirnigliaro2023 G
SERPINA9	SSC05299	chr14: 94933406-94933406	C	T	intronic		De novo					-	-	Trost2022 G
SERPINA9	AU055603	chr14: 94942174-94942174	G	A	intronic		De novo					-	-	Trost2022 G
SERPINA9	5-0084-003	chr14: 94941873-94941873	C	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G

Source Variant Information

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Paper Information

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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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