or
or
Exact

Results for "TNFRSF19"

Variant Events: 20

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
TNFRSF19     2-1591-003chr13:
24146408-24146408
CCTintronicDe novo--Trost2022 G
TNFRSF19     AU4093301chr13:
24145126-24145133
ACTACATGAintronicDe novo--Yuen2017 G
TNFRSF19     2-1114-003chr13:
24175597-24175597
CTintronicDe novo--Trost2022 G
Yuen2017 G
TNFRSF19     MT_21.3chr13:
24207603-24207603
ACintronicDe novo--Trost2022 G
TNFRSF19     3-0017-000chr13:
24222857-24222857
CTintronicDe novo--Trost2022 G
TNFRSF19     1-0188-003chr13:
24197789-24197789
GAintronicDe novo--Trost2022 G
TNFRSF19     2-1114-003chr13:
24175797-24175797
ATintronicDe novo--Trost2022 G
Yuen2017 G
TNFRSF19     2-1519-006chr13:
24199625-24199625
GAintronicDe novo--Trost2022 G
TNFRSF19     MSSNG00216-003chr13:
24162617-24162617
CTintronicDe novo--Trost2022 G
TNFRSF19     5-5065-003chr13:
24169880-24169880
AATintronicDe novo--Trost2022 G
TNFRSF19     13637.p1chr13:
24166239-24166239
CTintronicDe novo--Wilfert2021 G
TNFRSF19     AU2320301chr13:
24147413-24147414
ATAintronicDe novo--Trost2022 G
TNFRSF19     AU0786305chr13:
24154375-24154375
CGintronicDe novo--Trost2022 G
TNFRSF19     iHART3195chr13:
24243246-24243246
CTexonicPaternalstopgainNM_018647c.C1255Tp.R419X16.327.781E-5Ruzzo2019 G
TNFRSF19     7-0291-003Achr13:
24245466-24245466
GAintronicDe novo--Trost2022 G
TNFRSF19     AU3777302chr13:
24147810-24147810
ACintronicDe novo--Trost2022 G
Yuen2017 G
TNFRSF19     1-1130-003chr13:
24247821-24247822
AGAUTR3De novo--Trost2022 G
TNFRSF19     SP0129491chr13:
24242829-24242829
AGsplicingsplicing14.61-Zhou2022 GE
TNFRSF19     AU3839302chr13:
24243246-24243246
CTexonicPaternalstopgainNM_018647c.C1255Tp.R419X16.327.781E-5Cirnigliaro2023 G
TNFRSF19     2-0297-004chr13:
24248654-24248654
GAUTR3De novo--Trost2022 G
Yuen2017 G
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