Variant Results

or

or

Results for "SIGLEC5"

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
SIGLEC5	SP0053976	chr19: 52132556-52132556	C	A	intronic		De novo					-	-	Trost2022 G
SIGLEC5	1-1182-003	chr19: 52130543-52130543	C	T	intronic		De novo					-	-	Trost2022 G
SIGLEC5	13019.p1	chr19: 52133140-52133140	C	G	exonic		De novo	nonsynonymous SNV	NM_003830	c.G367C	p.G123R	14.95	-	Ji2016 E Krumm2015 E Satterstrom2020 E Zhou2022 GE
SIGLEC5	SP0055059	chr19: 52132740-52132740	C	T	exonic		De novo	nonsynonymous SNV	NM_003830	c.G571A	p.E191K	8.02	1.364E-5	Fu2022 E Zhou2022 GE
SIGLEC5	SP0072351	Complex Event; expand row to view variants					De novo					-	-	Trost2022 G Trost2022 G
SIGLEC5	SSC06029	chr19: 52133140-52133140	C	G	exonic		De novo	nonsynonymous SNV	NM_003830	c.G367C	p.G123R	14.95	-	Fu2022 E Lim2017 E Trost2022 G
SIGLEC5	SSC02450	chr19: 52132810-52132810	T	G	exonic		De novo	synonymous SNV	NM_003830	c.A501C	p.P167P	-	-	Fu2022 E
SIGLEC5	mAGRE4400	chr19: 52131124-52131125	CA	C	exonic		Paternal	frameshift deletion	NM_003830	c.959delT	p.L320fs	-	2.0E-4	Cirnigliaro2023 G
SIGLEC5	mAGRE4184	chr19: 52130905-52130905	G	T	exonic		Maternal	stopgain	NM_003830	c.C1092A	p.C364X	20.6	9.167E-6	Cirnigliaro2023 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More