or
or
Exact

Results for "ADAMTS18"

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
ADAMTS18     1-0640-003chr16:
77499690-77499690
CTintergenicDe novo--Yuen2017 G
ADAMTS18     AU2711303chr16:
77421966-77421966
CTintronicDe novo--Yuen2017 G
ADAMTS18     1-0835-003chr16:
77660605-77660605
TCintergenicDe novo--Yuen2017 G
ADAMTS18     7-0135-003chr16:
77457439-77457439
AGintronicDe novo--Yuen2017 G
ADAMTS18     1-0640-003chr16:
77520093-77520093
CGintergenicDe novo--Yuen2017 G
ADAMTS18     1-0640-003chr16:
77518663-77518663
CGintergenicDe novo--Yuen2017 G
ADAMTS18     3-0432-000chr16:
77667361-77667361
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ADAMTS18     5-0054-003chr16:
77457936-77457936
ACintronicDe novo--Yuen2017 G
ADAMTS18     2-1330-003chr16:
77543487-77543487
GAintergenicDe novo--Yuen2017 G
ADAMTS18     2-1417-003chr16:
77460412-77460412
TCintronicDe novo--Yuen2017 G
ADAMTS18     7-0095-003chr16:
77328355-77328355
CTintronicDe novo--Yuen2017 G
ADAMTS18     2-1239-003chr16:
77404332-77404332
CAintronicDe novo--Yuen2016 G
Yuen2017 G
ADAMTS18     A2chr16:
77389727-77389727
TCintronicDe novo--Wu2018 G
ADAMTS18     iHART1220chr16:
77356317-77356317
AAAATTexonicMaternalframeshift insertionNM_199355c.2078_2079insAATTp.F693fs--Ruzzo2019 G
ADAMTS18     iHART1221chr16:
77356317-77356317
AAAATTexonicMaternalframeshift insertionNM_199355c.2078_2079insAATTp.F693fs--Ruzzo2019 G
ADAMTS18     F10382-1chr16:
77354932-77354932
ACintronicDe novo-4.119E-5Satterstrom2020 E
ADAMTS18     AU2023302chr16:
77404168-77404168
AGintronicDe novo--Yuen2017 G
ADAMTS18     Lim2017:35938chr16:
77327129-77327129
CTexonicDe novosynonymous SNVNM_199355c.G3033Ap.V1011V--Lim2017 E
ADAMTS18     13118.p1chr16:
77327129-77327129
CTexonicDe novosynonymous SNVNM_199355c.G3033Ap.V1011V--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ADAMTS18     AU4072303chr16:
77569387-77569387
CTintergenicDe novo--Yuen2017 G
ADAMTS18     1-0493-003chr16:
77428251-77428251
TCintronicDe novo--Yuen2017 G
ADAMTS18     PN400230chr16:
77328886-77328886
GCexonicDe novosynonymous SNVNM_199355c.C2940Gp.P980P--Leblond2019 E
ADAMTS18     1-0051-004chr16:
77549494-77549494
GCintergenicDe novo--Yuen2017 G
ADAMTS18     PN400410chr16:
77328966-77328966
GAexonicUnknownstopgainNM_199355c.C2860Tp.R954X44.0-Leblond2019 E
ADAMTS18     JASD_Fam0112chr16:
77325261-77325261
GGTTTCexonicDe novoframeshift insertionNM_199355c.3303_3304insGAAAp.P1102fs--Takata2018 E
ADAMTS18     5-0045-003chr16:
77604408-77604408
ACintergenicDe novo--Yuen2017 G
ADAMTS18     1-0490-003chr16:
77466940-77466944
TCCCCTCCCCCintronicDe novo--Yuen2017 G
ADAMTS18     AU4376301chr16:
77463543-77463543
CTintronicDe novo--Yuen2017 G
ADAMTS18     SP0061153chr16:
77369788-77369788
CTexonicDe novononsynonymous SNVNM_199355c.G1724Ap.G575D34.0-Fu2022 E
ADAMTS18     35938chr16:
77327129-77327129
CTexonicDe novosynonymous SNVNM_199355c.G3033Ap.V1011V--Fu2022 E
ADAMTS18     SP0123987chr16:
77398026-77398026
GCintronicDe novo--Fu2022 E
Source Variant Information

, -

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
More