Variant Results

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Results for "NIT1"

Variant Events: 6

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
NIT1	AU4476302	chr1: 161088285-161088285	G	A	UTR5		De novo					-	-	Yuen2017 G
NIT1	iHART1257	chr1: 161089022-161089024	CAT	C	exonic		Paternal	frameshift deletion	NM_001185093 NM_001185092 NM_001185094 NM_005600	c.153_154del c.198_199del c.90_91del c.198_199del	p.T51fs p.T66fs p.T30fs p.T66fs	-	6.589E-5	Ruzzo2019 G
NIT1	iHART1259	chr1: 161089022-161089024	CAT	C	exonic		Paternal	frameshift deletion	NM_001185093 NM_001185092 NM_001185094 NM_005600	c.153_154del c.198_199del c.90_91del c.198_199del	p.T51fs p.T66fs p.T30fs p.T66fs	-	6.589E-5	Ruzzo2019 G
NIT1	PN400102	chr1: 161089651-161089653	TAG	T	exonic		Unknown	frameshift deletion	NM_001185093 NM_001185092 NM_001185094 NM_005600	c.456_457del c.501_502del c.393_394del c.501_502del	p.V152fs p.V167fs p.V131fs p.V167fs	-	-	Leblond2019 E
NIT1	mAGRE1259	chr1: 161089022-161089024	CAT	C	exonic		Paternal	frameshift deletion	NM_001185093 NM_001185092 NM_001185094 NM_005600	c.153_154del c.198_199del c.90_91del c.198_199del	p.T51fs p.T66fs p.T30fs p.T66fs	-	6.589E-5	Cirnigliaro2023 G
NIT1	mAGRE1257	chr1: 161089022-161089024	CAT	C	exonic		Paternal	frameshift deletion	NM_001185093 NM_001185092 NM_001185094 NM_005600	c.153_154del c.198_199del c.90_91del c.198_199del	p.T51fs p.T66fs p.T30fs p.T66fs	-	6.589E-5	Cirnigliaro2023 G

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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