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Results for "ENO3"

Variant Events: 31

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
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     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     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
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
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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