Variant Results

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Results for "SIRT1"

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
SIRT1	SP0015984	chr10: 69651318-69651318	A	G	intronic		De novo					-	8.287E-6	Fu2022 E Trost2022 G Zhou2022 GE
SIRT1	5-0125-003	chr10: 69667645-69667645	T	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SIRT1	1-0973-003	chr10: 69656410-69656410	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SIRT1	13942.p1	chr10: 69658003-69658003	T	C	intronic		De novo					-	-	Turner2016 G
SIRT1	1-0161-003	chr10: 69660556-69660566	TCCTTGAATTA	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SIRT1	SMHC00844d000	chr10: 69644622-69644622	C	T	exonic		De novo	nonsynonymous SNV	NM_012238	c.C143T	p.P48L	13.18	-	Yuan2023 E
SIRT1	MT_69.3	chr10: 69659832-69659832	A	T	intronic		De novo					-	-	Trost2022 G
SIRT1	13932.p1	chr10: 69672259-69672259	A	G	exonic		Mosaic, De novo	nonsynonymous SNV	NM_001314049 NM_001142498 NM_012238	c.A477G c.A501G c.A1386G	p.I159M p.I167M p.I462M	17.33	-	Dou2017 E Ji2016 E Krumm2015 E

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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