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Results for "ALMS1"

Variant Events: 16

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
ALMS1     1-0720-003chr2:
73768357-73768357
GAintronicDe novo--Yuen2017 G
ALMS1     3-0434-000chr2:
73814513-73814513
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ALMS1     5-0064-003chr2:
73682451-73682451
GAintronicDe novo--Yuen2017 G
ALMS1     12529.p1chr2:
73698980-73698980
TCintronicDe novo--Turner2016 G
ALMS1     iHART2284chr2:
73799775-73799776
ACAexonicMaternalframeshift deletionNM_015120c.10769delCp.T3590fs-7.494E-5Ruzzo2019 G
ALMS1     3-0432-000chr2:
73734629-73734629
GAintronicDe novo--Yuen2017 G
ALMS1     13552.p1chr2:
73681132-73681132
TGexonicMosaic, De novononsynonymous SNVNM_015120c.T7475Gp.L2492R17.75-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ALMS1     AU3951301chr2:
73692385-73692385
CTintronicDe novo--Yuen2017 G
ALMS1     AU2437302chr2:
73636627-73636627
TGintronicDe novo--Yuen2017 G
ALMS1     SSC08031chr2:
73681132-73681132
TGexonicDe novononsynonymous SNVNM_015120c.T7475Gp.L2492R17.75-Lim2017 E
ALMS1     1-0032-003chr2:
73745693-73745693
AGintronicDe novo--Yuen2017 G
ALMS1     2-0256-004chr2:
73632211-73632211
GAintronicDe novo--Yuen2017 G
ALMS1     2-1288-003chr2:
73667582-73667599
TTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTintronicDe novo--Yuen2017 G
ALMS1     AU2410302chr2:
73765410-73765410
GAintronicDe novo--Yuen2017 G
ALMS1     AC04-0014-01chr2:
73800198-73800198
ACexonicDe novononsynonymous SNVNM_015120c.A11191Cp.N3731H15.95-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ALMS1     AU079104chr2:
73790401-73790401
TCintronicDe novo--Yuen2017 G
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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