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Results for "PAM"

Variant Events: 24

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
PAM     AU2029301chr5:
102316914-102316914
GAintronicDe novo--Yuen2017 G
PAM     PN400507chr5:
102338739-102338739
CGexonicUnknownnonsynonymous SNVNM_138821
NM_000919
NM_001177306
NM_138766
NM_138822
c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G
p.S432W
p.S539W
p.S539W
p.S539W
p.S539W
24.80.0043Leblond2019 E
PAM     PN400272chr5:
102338739-102338739
CGexonicUnknownnonsynonymous SNVNM_138821
NM_000919
NM_001177306
NM_138766
NM_138822
c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G
p.S432W
p.S539W
p.S539W
p.S539W
p.S539W
24.80.0043Leblond2019 E
PAM     PN400326chr5:
102338739-102338739
CGexonicUnknownnonsynonymous SNVNM_138821
NM_000919
NM_001177306
NM_138766
NM_138822
c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G
p.S432W
p.S539W
p.S539W
p.S539W
p.S539W
24.80.0043Leblond2019 E
PAM     1232002chr5:
102363978-102363978
GAintronicDe novo--Satterstrom2020 E
PAM     A16chr5:
102371004-102371004
CTintergenicDe novo--Wu2018 G
PAM     DEASD_1006_001chr5:
102285721-102285721
TCintronicDe novo-9.673E-6Satterstrom2020 E
PAM     2-0704-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
PAM     PN400457chr5:
102338739-102338739
CGexonicUnknownnonsynonymous SNVNM_138821
NM_000919
NM_001177306
NM_138766
NM_138822
c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G
p.S432W
p.S539W
p.S539W
p.S539W
p.S539W
24.80.0043Leblond2019 E
PAM     SSC09186chr5:
102340877-102340877
TCexonicDe novosynonymous SNVNM_138821
NM_000919
NM_001177306
NM_138766
NM_138822
c.T1429C
c.T1750C
c.T1750C
c.T1750C
c.T1750C
p.L477L
p.L584L
p.L584L
p.L584L
p.L584L
8.333-Lim2017 E
PAM     AU048206chr5:
102223132-102223132
ATintronicDe novo--Yuen2017 G
PAM     PN400350chr5:
102338739-102338739
CGexonicUnknownnonsynonymous SNVNM_138821
NM_000919
NM_001177306
NM_138766
NM_138822
c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G
p.S432W
p.S539W
p.S539W
p.S539W
p.S539W
24.80.0043Leblond2019 E
PAM     13690.p1chr5:
102340877-102340877
TCexonicDe novosynonymous SNVNM_138821
NM_000919
NM_001177306
NM_138766
NM_138822
c.T1429C
c.T1750C
c.T1750C
c.T1750C
c.T1750C
p.L477L
p.L584L
p.L584L
p.L584L
p.L584L
8.333-Iossifov2014 E
Kosmicki2017 E
PAM     1-0144-005chr5:
102401698-102401698
TTGintergenicDe novo--Yuen2017 G
PAM     1-0125-003chr5:
102309880-102309880
ATexonicDe novononsynonymous SNVNM_000919
NM_001177306
NM_138766
NM_138822
c.A1223T
c.A1223T
c.A1223T
c.A1223T
p.H408L
p.H408L
p.H408L
p.H408L
22.4-Yuen2017 G
PAM     2-1397-003chr5:
102331887-102331887
CTintronicDe novo--Yuen2017 G
PAM     PN400415chr5:
102338739-102338739
CGexonicUnknownnonsynonymous SNVNM_138821
NM_000919
NM_001177306
NM_138766
NM_138822
c.C1295G
c.C1616G
c.C1616G
c.C1616G
c.C1616G
p.S432W
p.S539W
p.S539W
p.S539W
p.S539W
24.80.0043Leblond2019 E
PAM     1-0469-003chr5:
102269141-102269141
TCintronicDe novo--Yuen2017 G
PAM     AU3913301chr5:
102301348-102301348
TCintronicDe novo--Yuen2017 G
PAM     2-0098-003chr5:
102313703-102313703
CGintronicDe novo--Yuen2016 G
Yuen2017 G
PAM     AU2777302chr5:
102221175-102221175
AGintronicDe novo--Yuen2017 G
PAM     13171.p1chr5:
102297964-102297964
AGintronicDe novo--Turner2016 G
PAM     1-0025-004chr5:
102264869-102264869
ACintronicDe novo--Yuen2017 G
PAM     AU4378301chr5:
102380496-102380496
CAintergenicDe 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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