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Results for "Zhou2019"

Variant Events: 18

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
MBD5     AU012204chr2:
149226485-149226485		CTexonicDe novostopgainNM_018328c.C973Tp.R325X46.0-Zhou2019 T
MEF2C     AU065903chr5:
88027590-88027590		GAexonicDe novostopgainNM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347		c.C622T
c.C622T
c.C766T
c.C766T
c.C766T
c.C760T
c.C820T		p.R208X
p.R208X
p.R256X
p.R256X
p.R256X
p.R254X
p.R274X		42.0-Zhou2019 T
PTEN     AU037503chr10:
89692977-89692977		TTTexonicMaternalframeshift insertionNM_000314
NM_001304717		c.461dupT
c.980dupT		p.F154fs
p.F327fs		--Zhou2019 T
PTEN     AU060803chr10:
89692920-89692920		TTTexonicPaternalframeshift insertionNM_000314
NM_001304717		c.404dupT
c.923dupT		p.I135fs
p.I308fs		--Zhou2019 T
IQSEC2     AU076603chrX:
53283884-53283885		GGGexonicUnknownframeshift deletionNM_001111125
NM_015075		c.1228delC
c.613delC		p.P410fs
p.P205fs		--Zhou2019 T
RNF135     AU052603chr17:
29325924-29325925		GGGexonicPaternalframeshift deletionNM_032322c.1015delGp.V339fs--Zhou2019 T
NF1     AU099703chr17:
29548968-29548968		TTTexonicMaternalframeshift insertionNM_001128147c.1742dupTp.L581fs--Zhou2019 T
SHANK3     AU056603chr22:
51159722-51159722		GGGexonicDe novoframeshift insertionNM_033517c.3419dupGp.G1140fs--Zhou2019 T
RNF135     AU095503chr17:
29325924-29325925		GGGexonicPaternalframeshift deletionNM_032322c.1015delGp.V339fs--Zhou2019 T
HEPACAM     AU048503chr11:
124793235-124793235		CTsplicingPaternalsplicing13.283.301E-5Zhou2019 T
CDKL5     AU095803chrX:
18668586-18668586		CTexonicMaternalstopgainNM_003159
NM_001037343		c.C2854T
c.C2854T		p.R952X
p.R952X		38.01.0E-4Zhou2019 T
NF1     AU065503chr17:
29548968-29548968		TTTexonicMaternalframeshift insertionNM_001128147c.1742dupTp.L581fs--Zhou2019 T
NF1     AU065403chr17:
29548968-29548968		TTTexonicMaternalframeshift insertionNM_001128147c.1742dupTp.L581fs--Zhou2019 T
TSC2     AU017403chr16:
2110776-2110776		CGexonicMaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C1081G
c.C1081G
c.C1081G		p.L361V
p.L361V
p.L361V		16.97-Zhou2019 T
SHANK3     AU035703chr22:
51159977-51159977		CCCexonicDe novoframeshift insertionNM_033517c.3674dupCp.P1225fs--Zhou2019 T
SHANK3     AU013503chr22:
51159977-51159977		CCCexonicUnknownframeshift insertionNM_033517c.3674dupCp.P1225fs--Zhou2019 T
MAP2K1     AU018703chr15:
66727483-66727483		GAexonicUnknownnonsynonymous SNVNM_002755c.G199Ap.D67N36.0-Zhou2019 T
TSC2     AU039303chr16:
2136283-2136295		GAAGGACTGCCAGGexonicDe novononframeshift deletionNM_001077183
NM_001114382
NM_000548		c.4552_4563del
c.4684_4695del
c.4753_4764del		p.1518_1521del
p.1562_1565del
p.1585_1588del		--Zhou2019 T
Source Variant Information

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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
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