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Results for "ASAP1"

Variant Events: 37

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
ASAP1     1-0388-003chr8:
131582154-131582154
GAintergenicDe novo--Yuen2017 G
ASAP1     7-0250-003chr8:
131259305-131259305
TCintronicDe novo--Yuen2017 G
ASAP1     AU4228301chr8:
131545193-131545193
CTintergenicDe novo--Yuen2017 G
ASAP1     2-0307-003chr8:
131776568-131776568
CTintergenicDe novo--Yuen2017 G
ASAP1     1-0439-003chr8:
131150242-131150242
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ASAP1     2-1415-004chr8:
131406714-131406714
GAintronicDe novo--Yuen2017 G
ASAP1     AU047703chr8:
131583746-131583746
TCintergenicDe novo--Yuen2017 G
ASAP1     2-1689-003chr8:
131581665-131581665
TAintergenicDe novo--Yuen2017 G
ASAP1     AU4219302chr8:
131264590-131264590
TCintronicDe novo--Yuen2017 G
ASAP1     2-1297-003chr8:
131764709-131764709
CTintergenicDe novo--Yuen2017 G
ASAP1     2-1246-003chr8:
131441012-131441012
CAintronicDe novo--Yuen2017 G
ASAP1     1-0554-003chr8:
131332157-131332165
CACTAACTACACTAintronicDe novo--Yuen2017 G
ASAP1     2-1167-003chr8:
131441792-131441792
GCintronicDe novo--Yuen2016 G
Yuen2017 G
ASAP1     1-0304-003chr8:
131439590-131439590
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ASAP1     A17chr8:
131353099-131353099
TCintronicDe novo0.009-Wu2018 G
ASAP1     AU060703chr8:
131741830-131741830
GCintergenicDe novo--Yuen2017 G
ASAP1     12757.p1chr8:
131179874-131179874
AGintronicDe novo-5.85E-5Iossifov2014 E
Kosmicki2017 E
ASAP1     iHART1383chr8:
131124339-131124339
CTsplicingPaternalsplicing26.4-Ruzzo2019 G
ASAP1     7-0023-003chr8:
131594417-131594417
GAintergenicDe novo--Yuen2017 G
ASAP1     AU3891304chr8:
131122259-131122259
TCintronicDe novo--Yuen2017 G
ASAP1     AU026412chr8:
131696086-131696086
TCintergenicDe novo--Yuen2017 G
ASAP1     AU4054302chr8:
131574087-131574087
GCintergenicDe novo--Yuen2017 G
ASAP1     2-0002-005chr8:
131184258-131184258
GAintronicDe novo--Yuen2017 G
ASAP1     12449.p1chr8:
131723536-131723536
CTintergenicDe novo--Turner2016 G
ASAP1     2-1117-003chr8:
131784718-131784718
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ASAP1     2-1308-003chr8:
131566165-131566165
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ASAP1     12011.p1chr8:
131070637-131070637
CTintronicDe novo--Turner2016 G
ASAP1     7-0179-003chr8:
131436210-131436210
GAintronicDe novo--Yuen2017 G
ASAP1     AU071204chr8:
131118937-131118938
CTCTTintronicDe novo--Yuen2017 G
ASAP1     1-0965-003chr8:
131300335-131300335
GAintronicDe novo--Yuen2017 G
ASAP1     1-0400-003chr8:
131497935-131497935
GAintergenicDe novo--Yuen2017 G
ASAP1     1-0706-003chr8:
131500746-131500746
GTintergenicDe novo--Yuen2017 G
ASAP1     2-1567-004chr8:
131392430-131392430
GTintronicDe novo--Yuen2017 G
ASAP1     1-0467-005chr8:
131628068-131628068
TTAACCTAGGintergenicDe novo--Yuen2017 G
ASAP1     2-1146-003chr8:
131789026-131789026
CTintergenicDe novo--Yuen2017 G
ASAP1     2-1352-003chr8:
131545998-131545998
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ASAP1     104-06-105816chr8:
131370213-131370213
GAintronicDe novo--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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