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Results for "ENO3"

Variant Events: 34

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
ENO3     SanDiego_Y2P2Zchr17:
4858741-4858742		ACAexonicUnknownframeshift deletionNM_001193503
NM_001976
NM_053013		c.579delC
c.708delC
c.708delC		p.Y193fs
p.Y236fs
p.Y236fs		-8.24E-6Wang2020 T
ENO3     ACGC_M23597chr17:
4859923-4859923		GAexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G994A
c.G1123A
c.G1123A		p.E332K
p.E375K
p.E375K		35.08.237E-6Wang2020 T
ENO3     TASC_217-14019-390chr17:
4858741-4858742		ACAexonicUnknownframeshift deletionNM_001193503
NM_001976
NM_053013		c.579delC
c.708delC
c.708delC		p.Y193fs
p.Y236fs
p.Y236fs		-8.24E-6Wang2020 T
ENO3     SP0034139chr17:
4858762-4858762		GAexonicDe novononsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G599A
c.G728A
c.G728A		p.G200D
p.G243D
p.G243D		33.0-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
ENO3     Iowa_205_3_a.2.1chr17:
4859899-4859899		GTexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G970T
c.G1099T
c.G1099T		p.V324L
p.V367L
p.V367L		33.0-Wang2020 T
ENO3     SanDiego_S6K7Mchr17:
4855127-4855127		GAexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G3A
c.G3A
c.G3A		p.M1I
p.M1I
p.M1I		21.98.238E-6Wang2020 T
ENO3     Iowa_205_1_a.2.1chr17:
4859899-4859899		GTexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G970T
c.G1099T
c.G1099T		p.V324L
p.V367L
p.V367L		33.0-Wang2020 T
ENO3     AGRE_05C49356chr17:
4859956-4859956		GAexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G1027A
c.G1156A
c.G1156A		p.V343M
p.V386M
p.V386M		26.8-Wang2020 T
ENO3     Iowa_205_4_a.2.1chr17:
4859899-4859899		GTexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G970T
c.G1099T
c.G1099T		p.V324L
p.V367L
p.V367L		33.0-Wang2020 T
ENO3     ACGC_M26196chr17:
4856158-4856158		GAexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G154A
c.G154A
c.G154A		p.G52R
p.G52R
p.G52R		25.82.002E-5Wang2020 T
ENO3     Leuven2_60751427chr17:
4855150-4855150		GCexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G26C
c.G26C
c.G26C		p.R9P
p.R9P
p.R9P		32.08.239E-6Wang2020 T
ENO3     SanDiego_U8B3Ychr17:
4860138-4860138		GAexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G1060A
c.G1189A
c.G1189A		p.A354T
p.A397T
p.A397T		36.04.118E-5Wang2020 T
ENO3     SanDiego_G5A3Schr17:
4858774-4858774		CTexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.C611T
c.C740T
c.C740T		p.A204V
p.A247V
p.A247V		36.0-Wang2020 T
ENO3     SanDiego_U7U3Cchr17:
4858388-4858388		GAexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G334A
c.G463A
c.G463A		p.G112R
p.G155R
p.G155R		29.73.325E-5Wang2020 T
ENO3     ACGC_M23258chr17:
4856179-4856184		GGGAAAGexonicUnknownframeshift deletionNM_001193503
NM_001976
NM_053013		c.176_180del
c.176_180del
c.176_180del		p.G59fs
p.G59fs
p.G59fs		--Wang2020 T
ENO3     ACGC_SD0323.p1chr17:
4860323-4860323		GAexonicPaternalnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G1157A
c.G1286A
c.G1286A		p.R386H
p.R429H
p.R429H		34.01.649E-5Wang2020 T
ENO3     Leuven_149991chr17:
4859439-4859439		GAsplicingUnknownsplicing17.588.499E-5Wang2020 T
ENO3     ACGC_SD0300.p1chr17:
4860151-4860151		CTexonicMaternalnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.C1073T
c.C1202T
c.C1202T		p.S358L
p.S401L
p.S401L		34.0-Wang2020 T
ENO3     ACGC_HEN0045.p1chr17:
4859977-4859977		GAsplicingPaternalsplicing20.3-Wang2020 T
ENO3     Leuven_314599chr17:
4859439-4859439		GAsplicingUnknownsplicing17.588.499E-5Wang2020 T
ENO3     AU4013303chr17:
4860138-4860138		GGCexonicPaternalframeshift insertionNM_001193503
NM_001976
NM_053013		c.1061dupC
c.1190dupC
c.1190dupC		p.A354fs
p.A397fs
p.A397fs		-1.0E-4Cirnigliaro2023 G
ENO3     AU4013302chr17:
4860138-4860138		GGCexonicPaternalframeshift insertionNM_001193503
NM_001976
NM_053013		c.1061dupC
c.1190dupC
c.1190dupC		p.A354fs
p.A397fs
p.A397fs		-1.0E-4Cirnigliaro2023 G
ENO3     ACGC_GX0249.p1chr17:
4857048-4857048		GAexonicMaternalnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G223A
c.G352A
c.G352A		p.V75M
p.V118M
p.V118M		35.02.471E-5Wang2020 T
ENO3     ACGC_GD0109.p1chr17:
4857108-4857108		GAexonicPaternalnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G283A
c.G412A
c.G412A		p.A95T
p.A138T
p.A138T		36.01.0E-4Wang2020 T
ENO3     REACH000735chr17:
4858452-4858452		GAexonicDe novononsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G398A
c.G527A
c.G527A		p.S133N
p.S176N
p.S176N		15.08-Trost2022 G
Zhou2022 GE
ENO3     iHART3248chr17:
4860138-4860138		GGCexonicPaternalframeshift insertionNM_001193503
NM_001976
NM_053013		c.1061dupC
c.1190dupC
c.1190dupC		p.A354fs
p.A397fs
p.A397fs		-1.0E-4Ruzzo2019 G
ENO3     Leuven_414368chr17:
4859960-4859960		GAexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G1031A
c.G1160A
c.G1160A		p.G344E
p.G387E
p.G387E		25.18.237E-6Wang2020 T
ENO3     iHART3250chr17:
4860138-4860138		GGCexonicPaternalframeshift insertionNM_001193503
NM_001976
NM_053013		c.1061dupC
c.1190dupC
c.1190dupC		p.A354fs
p.A397fs
p.A397fs		-1.0E-4Ruzzo2019 G
ENO3     ACGC_HN0135.p1chr17:
4857108-4857108		GAexonicMaternalnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G283A
c.G412A
c.G412A		p.A95T
p.A138T
p.A138T		36.01.0E-4Wang2020 T
ENO3     MT_109chr17:
4858791-4858791		CTexonicMaternalnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.C628T
c.C757T
c.C757T		p.R210C
p.R253C
p.R253C		16.04-Toma2013 E
ENO3     SSC09261chr17:
4858906-4858906		CTintronicDe novo-1.652E-5Fu2022 E
Trost2022 G
ENO3     P1339chr17:
4859881-4859881		CTexonicDe novostopgainNM_001193503
NM_001976
NM_053013		c.C952T
c.C1081T
c.C1081T		p.Q318X
p.Q361X
p.Q361X		37.0-Hashimoto2016 E
Wang2020 T
ENO3     AGRE_07C62530chr17:
4859317-4859317		GTexonicUnknownnonsynonymous SNVNM_001193503
NM_001976
NM_053013		c.G817T
c.G946T
c.G946T		p.V273L
p.V316L
p.V316L		30.0-Wang2020 T
ENO3     13887.p1chr17:
4858906-4858906		CTintronicDe novo-1.652E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
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
Curation notesView
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