Variant Results

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Results for "DBNL"

Variant Events: 7

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
DBNL	11382.p1	chr7: 44100380-44100380	C	T	exonic		De novo	synonymous SNV	NM_001284313 NM_001284315 NM_001014436 NM_001122956 NM_014063	c.C849T c.C876T c.C1158T c.C1185T c.C1161T	p.D283D p.D292D p.D386D p.D395D p.D387D	8.275	3.331E-5	Iossifov2014 E Kosmicki2017 E Krupp2017 E Sanders2012 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
DBNL	SP0130684	chr7: 44097990-44097990	G	T	intronic		De novo					-	-	Fu2022 E Trost2022 G
DBNL	7-0335-003	chr7: 44095075-44095075	C	G	intronic		De novo					-	-	Trost2022 G
DBNL	A22	chr7: 44089617-44089617	C	T	intronic		De novo					-	-	Wu2018 G
DBNL	1-0570-003	chr7: 44084076-44084076	C	T	downstream;upstream		De novo					-	-	Trost2022 G Yuen2017 G
DBNL	1-0233-004	chr7: 44089684-44089684	G	C	intronic		De novo					-	-	Yuen2017 G
DBNL	mAGRE5878	chr7: 44098481-44098481	C	A	exonic		Maternal	stopgain	NM_001122956	c.C761A	p.S254X	15.99	8.328E-6	Cirnigliaro2023 G

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Paper Information

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