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Results for "TTC7A"

Variant Events: 27

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
TTC7A     2-0299-005chr2:
47170285-47170285
GGCintronicDe novo--Trost2022 G
Yuen2017 G
TTC7A     AU4308302chr2:
47170147-47170147
CAintronicDe novo--Trost2022 G
Yuen2017 G
TTC7A     iHART1348chr2:
47300932-47300932
GAexonicPaternalstopgainNM_001288955
NM_020458
NM_001288951
NM_001288953
c.G1385A
c.G2447A
c.G2519A
c.G2345A
p.W462X
p.W816X
p.W840X
p.W782X
42.0-Ruzzo2019 G
TTC7A     2-1429-004chr2:
47312686-47312686
CTintergenicDe novo--Yuen2017 G
TTC7A     4-0073-003chr2:
47189103-47189103
TAintronicDe novo--Trost2022 G
TTC7A     4-0062-003chr2:
47189103-47189103
TAintronicDe novo--Trost2022 G
TTC7A     1-0025-004chr2:
47207566-47207566
GAintronicDe novo--Trost2022 G
Yuen2017 G
TTC7A     1-0395-003chr2:
47211268-47211268
CTintronicDe novo--Trost2022 G
Yuen2017 G
TTC7A     4-0073-003chr2:
47189108-47189108
GCintronicDe novo--Trost2022 G
TTC7A     4-0062-003chr2:
47189108-47189108
GCintronicDe novo--Trost2022 G
TTC7A     5-5127-003chr2:
47279688-47279688
CTintronicDe novo--Trost2022 G
TTC7A     3-0176-000chr2:
47270209-47270209
CTintronicDe novo--Trost2022 G
TTC7A     SP0042327chr2:
47221698-47221698
ACintronicDe novo--Fu2022 E
TTC7A     SP0012291chr2:
47249025-47249025
AGexonicDe novononsynonymous SNVNM_001288955
NM_001288951
NM_020458
NM_001288953
c.A355G
c.A1417G
c.A1417G
c.A1315G
p.M119V
p.M473V
p.M473V
p.M439V
11.18-Fu2022 E
Trost2022 G
Zhou2022 GE
TTC7A     MSSNG00352-003chr2:
47280029-47280029
GTintronicDe novo--Trost2022 G
TTC7A     4-0040-004chr2:
47251772-47251772
TTGACCintronicDe novo--Trost2022 G
TTC7A     MSSNG00358-004chr2:
47248529-47248529
CTintronicDe novo--Trost2022 G
TTC7A     MT_47.3chr2:
47265484-47265484
CGintronicDe novo--Trost2022 G
TTC7A     1-1111-003chr2:
47259777-47259777
TCintronicDe novo--Trost2022 G
TTC7A     1-0395-004chr2:
47211268-47211268
CTintronicDe novo--Yuen2017 G
TTC7A     5901chr2:
47278924-47278924
AGexonicDe novononsynonymous SNVNM_001288955
NM_020458
NM_001288951
NM_001288953
c.A995G
c.A2057G
c.A2129G
c.A1955G
p.E332G
p.E686G
p.E710G
p.E652G
29.5-Fu2022 E
TTC7A     SMHC00845s000chr2:
47256441-47256441
CAexonicDe novononsynonymous SNVNM_001288955
NM_001288951
NM_020458
NM_001288953
c.C658A
c.C1720A
c.C1720A
c.C1618A
p.L220M
p.L574M
p.L574M
p.L540M
16.56-Yuan2023 E
TTC7A     2-1222-003chr2:
47182571-47182571
GTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TTC7A     2-1183-003chr2:
47284781-47284781
GAintronicDe novo--Trost2022 G
Yuen2017 G
TTC7A     Wang2023:845chr2:
47256441-47256441
CAexonicDe novononsynonymous SNVNM_001288955
NM_001288951
NM_020458
NM_001288953
c.C658A
c.C1720A
c.C1720A
c.C1618A
p.L220M
p.L574M
p.L574M
p.L540M
16.56-Wang2023 E
TTC7A     14370.p1chr2:
47278072-47278072
TCintronicDe novo--Turner2016 G
TTC7A     mAGRE1348chr2:
47300932-47300932
GAexonicPaternalstopgainNM_001288955
NM_020458
NM_001288951
NM_001288953
c.G1385A
c.G2447A
c.G2519A
c.G2345A
p.W462X
p.W816X
p.W840X
p.W782X
42.0-Cirnigliaro2023 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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