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Results for "TTLL5"

Variant Events: 18

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
TTLL5     1-0354-003chr14:
76395150-76395150
AGintronicDe novo--Yuen2017 G
TTLL5     1-0138-003chr14:
76166239-76166239
GAintronicDe novo--Yuen2017 G
TTLL5     2-1594-003chr14:
76294490-76294490
GTintronicDe novo--Yuen2017 G
TTLL5     1-0201-005chr14:
76407870-76407871
ATAintronicDe novo--Yuen2017 G
TTLL5     5-0018-003chr14:
76321490-76321490
GTintronicDe novo--Yuen2017 G
TTLL5     2-1729-003chr14:
76329601-76329601
TGintronicDe novo--Yuen2017 G
TTLL5     7-0067-003chr14:
76152681-76152681
TCintronicDe novo--Yuen2017 G
TTLL5     AU1795301chr14:
76266331-76266331
CTintronicDe novo--Yuen2017 G
TTLL5     11693.p1chr14:
76231014-76231014
AGexonicDe novononsynonymous SNVNM_015072c.A1607Gp.K536R14.28-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
TTLL5     11021.p1chr14:
76231082-76231082
AGexonicDe novononsynonymous SNVNM_015072c.A1675Gp.S559G4.132-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
TTLL5     12793.p1chr14:
76246068-76246069
GAGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G
TTLL5     SSC00002chr14:
76231082-76231082
AGexonicDe novononsynonymous SNVNM_015072c.A1675Gp.S559G4.132-Lim2017 E
TTLL5     SSC03418chr14:
76231014-76231014
AGexonicDe novononsynonymous SNVNM_015072c.A1607Gp.K536R14.28-Lim2017 E
TTLL5     iHART2704chr14:
76241851-76241851
CTexonicPaternalstopgainNM_015072c.C2161Tp.R721X41.0-Ruzzo2019 G
TTLL5     2-1411-003chr14:
76271786-76271786
CTintronicDe novo--Yuen2016 G
Yuen2017 G
TTLL5     1-0455-003chr14:
76376535-76376535
TCintronicDe novo--Yuen2017 G
TTLL5     1-0560-003chr14:
76195967-76195967
TCintronicDe novo--Yuen2017 G
TTLL5     5-0033-004chr14:
76290947-76290947
AGintronicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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
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