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Results for "Torti2019"

Variant Events: 27

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
TCF20     Torti2019:7chr22:
42609352-42609352		GAexonicUnknownstopgainNM_181492
NM_005650		c.C1960T
c.C1960T		p.Q654X
p.Q654X		39.0-Torti2019 T
TCF20     Torti2019:6chr22:
42609501-42609503		ACAAexonicDe novoframeshift deletionNM_181492
NM_005650		c.1809_1810del
c.1809_1810del		p.T603fs
p.T603fs		--Torti2019 T
TCF20     Torti2019:9chr22:
42609157-42609157		GAexonicDe novostopgainNM_181492
NM_005650		c.C2155T
c.C2155T		p.R719X
p.R719X		39.0-Torti2019 T
TCF20     Torti2019:8chr22:
42609222-42609224		TCATexonicDe novoframeshift deletionNM_181492
NM_005650		c.2088_2089del
c.2088_2089del		p.T696fs
p.T696fs		--Torti2019 T
TCF20     Torti2019:1chr22:
42610954-42610954		GGGexonicDe novoframeshift insertionNM_181492
NM_005650		c.358dupC
c.358dupC		p.P120fs
p.P120fs		--Torti2019 T
TCF20     Torti2019:5chr22:
42609609-42609610		GGGexonicDe novoframeshift deletionNM_181492
NM_005650		c.1702delC
c.1702delC		p.P568fs
p.P568fs		--Torti2019 T
TCF20     Torti2019:2chr22:
42610689-42610690		AGAexonicDe novoframeshift deletionNM_181492
NM_005650		c.622delC
c.622delC		p.L208fs
p.L208fs		--Torti2019 T
TCF20     Torti2019:17achr22:
42607510-42607512		TCTTexonicUnknownframeshift deletionNM_181492
NM_005650		c.3800_3801del
c.3800_3801del		p.K1267fs
p.K1267fs		--Torti2019 T
TCF20     Torti2019:15chr22:
42607708-42607708		CCCexonicDe novoframeshift insertionNM_181492
NM_005650		c.3604dupG
c.3604dupG		p.G1202fs
p.G1202fs		--Torti2019 T
TCF20     Torti2019:17cchr22:
42607510-42607512		TCTTexonicUnknownframeshift deletionNM_181492
NM_005650		c.3800_3801del
c.3800_3801del		p.K1267fs
p.K1267fs		--Torti2019 T
TCF20     Torti2019:17bchr22:
42607510-42607512		TCTTexonicUnknownframeshift deletionNM_181492
NM_005650		c.3800_3801del
c.3800_3801del		p.K1267fs
p.K1267fs		--Torti2019 T
TCF20     Torti2019:10bchr22:
42609088-42609088		GAexonicUnknownstopgainNM_181492
NM_005650		c.C2224T
c.C2224T		p.R742X
p.R742X		40.0-Torti2019 T
TCF20     Torti2019:10achr22:
42609088-42609088		GAexonicUnknownstopgainNM_181492
NM_005650		c.C2224T
c.C2224T		p.R742X
p.R742X		40.0-Torti2019 T
TCF20     Torti2019:14chr22:
42607826-42607826		GGGexonicDe novoframeshift insertionNM_181492
NM_005650		c.3486dupC
c.3486dupC		p.R1162fs
p.R1162fs		--Torti2019 T
TCF20     Torti2019:12chr22:
42608718-42608718		GCexonicDe novostopgainNM_181492
NM_005650		c.C2594G
c.C2594G		p.S865X
p.S865X		40.0-Torti2019 T
LDLR     Torti2019:10achr19:
11230819-11230819		CTexonicMaternalnonsynonymous SNVNM_001195800
NM_001195799
NM_001195803
NM_000527
NM_001195798		c.C1393T
c.C1774T
c.C1516T
c.C1897T
c.C1897T		p.R465C
p.R592C
p.R506C
p.R633C
p.R633C		14.24-Torti2019 T
DNM2     Torti2019:7chr19:
10922947-10922947		GTexonicUnknownnonsynonymous SNVNM_001005362
NM_004945
NM_001005360
NM_001005361
NM_001190716		c.G1553T
c.G1553T
c.G1565T
c.G1565T
c.G1565T		p.R518L
p.R518L
p.R522L
p.R522L
p.R522L		34.0-Torti2019 T
FLG     Torti2019:10achr1:
152285080-152285084		GACTGGexonicPaternalframeshift deletionNM_002016c.2278_2281delp.Q760fs--Torti2019 T
FLG     Torti2019:10achr1:
152287839-152287839		CAexonicMaternalstopgainNM_002016c.G94Tp.E32X31.02.0E-4Torti2019 T
TCF20     Torti2019:23chr22:
42605927-42605929		ACAAexonicDe novoframeshift deletionNM_181492
NM_005650		c.5383_5384del
c.5383_5384del		p.C1795fs
p.C1795fs		--Torti2019 T
TCF20     Torti2019:21chr22:
42606368-42606369		TGTexonicDe novoframeshift deletionNM_181492
NM_005650		c.4943delC
c.4943delC		p.T1648fs
p.T1648fs		--Torti2019 T
FLG     Torti2019:7chr1:
152285861-152285861		GAexonicMaternalstopgainNM_002016c.C1501Tp.R501X28.50.0087Torti2019 T
TCF20     Torti2019:24chr22:
42575639-42575639		GAexonicDe novononsynonymous SNVNM_181492
NM_005650		c.C5725T
c.C5725T		p.H1909Y
p.H1909Y		23.8-Torti2019 T
FLG     Torti2019:21chr1:
152285861-152285861		GAexonicMaternalstopgainNM_002016c.C1501Tp.R501X28.50.0087Torti2019 T
LDLR     Torti2019:10bchr19:
11230819-11230819		CTexonicMaternalnonsynonymous SNVNM_001195800
NM_001195799
NM_001195803
NM_000527
NM_001195798		c.C1393T
c.C1774T
c.C1516T
c.C1897T
c.C1897T		p.R465C
p.R592C
p.R506C
p.R633C
p.R633C		14.24-Torti2019 T
TNFRSF13B     Torti2019:24chr17:
16843729-16843729		GTexonicUnknownnonsynonymous SNVNM_012452c.C542Ap.A181E2.2340.0054Torti2019 T
FLG     Torti2019:21chr1:
152285080-152285084		GACTGGexonicUnknownframeshift deletionNM_002016c.2278_2281delp.Q760fs--Torti2019 T
Source Variant Information

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Source:

Paper alias:

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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
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