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Results for "TG"

Variant Events: 25

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
TG     2-1422-003chr8:
134129800-134129800
CTintronicDe novo--Yuen2016 G
Yuen2017 G
TG     1-0923-003chr8:
133883698-133883698
CTexonicDe novononsynonymous SNVNM_003235c.C380Tp.A127V7.3841.0E-4Yuen2017 G
TG     09C83077chr8:
134030274-134030274
TTGintronicDe novo--Satterstrom2020 E
TG     7-0256-003chr8:
133999637-133999637
CTintronicDe novo--Yuen2017 G
TG     AU046706chr8:
133933854-133933854
TGintronicDe novo--Yuen2017 G
TG     AU057405chr8:
134181296-134181296
GCintergenicDe novo--Yuen2017 G
TG     2-0310-003chr8:
133945429-133945429
GGTGTGTAintronicDe novo--Yuen2017 G
TG     AU4269301chr8:
133942474-133942474
TCintronicDe novo--Yuen2017 G
TG     iHART1232chr8:
133898968-133898968
CTexonicMaternalstopgainNM_003235c.C1351Tp.R451X20.58.278E-6Ruzzo2019 G
TG     iHART2912chr8:
133883734-133883734
GAexonicMaternalstopgainNM_003235c.G416Ap.W139X21.29.062E-5Ruzzo2019 G
TG     iHART2039chr8:
133899528-133899528
GAexonicPaternalstopgainNM_003235c.G1911Ap.W637X39.02.551E-5Ruzzo2019 G
TG     iHART2036chr8:
133899528-133899528
GAexonicPaternalstopgainNM_003235c.G1911Ap.W637X39.02.551E-5Ruzzo2019 G
TG     1-0395-003chr8:
133953365-133953367
CATCintronicDe novo--Yuen2017 G
TG     11544.p1chr8:
133935689-133935689
CTexonicDe novosynonymous SNVNM_003235c.C4635Tp.D1545D0.0168.243E-6Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
TG     1-0901-003chr8:
133945435-133945435
GAintronicDe novo--Yuen2017 G
TG     iHART3044chr8:
134125849-134125849
TCsplicingPaternalsplicing12.56-Ruzzo2019 G
TG     14482.p1chr8:
134154509-134154509
GAintergenicDe novo--Turner2016 G
TG     iHART3047chr8:
134125849-134125849
TCsplicingPaternalsplicing12.56-Ruzzo2019 G
TG     1-0595-004chr8:
134139505-134139505
GAintronicDe novo--Yuen2017 G
TG     2-1215-003chr8:
134010629-134010629
CAintronicDe novo--Yuen2017 G
TG     AU002405chr8:
134188998-134188998
AGintergenicDe novo--Yuen2017 G
TG     7-0222-003chr8:
134147608-134147608
GAdownstreamDe novo--Yuen2017 G
TG     1-0051-005chr8:
133913746-133913746
CTexonicDe novosynonymous SNVNM_003235c.C3582Tp.S1194S0.2111.664E-5Yuen2017 G
TG     1-0395-004chr8:
133953365-133953367
CATCintronicDe novo--Yuen2017 G
TG     AU061104chr8:
133979491-133979491
CAintronicDe 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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