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Results for "SSH2"

Variant Events: 19

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
SSH2     2-1300-003chr17:
27970909-27970909
TCintronicDe novo--Yuen2016 G
Yuen2017 G
SSH2     1-0196-005chr17:
28170265-28170265
AGintronicDe novo--Yuen2017 G
SSH2     1-0196-005chr17:
27997101-27997101
TAintronicDe novo--Yuen2017 G
SSH2     1-0570-003chr17:
28110430-28110430
CGintronicDe novo--Yuen2017 G
SSH2     2-1142-003chr17:
28069340-28069340
TCintronicDe novo--Yuen2017 G
SSH2     2-0219-004chr17:
28221205-28221207
GTAGintronicDe novo--Yuen2017 G
SSH2     2-0307-003chr17:
27984782-27984782
GAintronicDe novo--Yuen2017 G
SSH2     2-1235-004chr17:
28146447-28146447
AGintronicDe novo--Yuen2017 G
SSH2     2-1605-003chr17:
27963346-27963346
AGexonicDe novosynonymous SNVNM_033389
NM_001282129
c.T1821C
c.T1902C
p.N607N
p.N634N
--Yuen2017 G
SSH2     AU1795302chr17:
28131053-28131053
CTintronicDe novo--Yuen2017 G
SSH2     72-1397chr17:
27963290-27963290
GTexonicInheritednonsynonymous SNVNM_033389
NM_001282129
c.C1877A
c.C1958A
p.S626Y
p.S653Y
21.8-Patowary2019 E
SSH2     AU4067301chr17:
28223430-28223430
TCintronicDe novo--Yuen2017 G
SSH2     09C87503chr17:
27958409-27958409
CTexonicDe novononsynonymous SNVNM_033389
NM_001282129
c.G3722A
c.G3803A
p.R1241Q
p.R1268Q
12.337.413E-5Satterstrom2020 E
SSH2     12303.p1chr17:
27982695-27982698
GAGAGintronicDe novo--Dong2014 E
Kosmicki2017 E
Satterstrom2020 E
SSH2     2-0214-003chr17:
27979449-27979449
CTintronicDe novo--Yuen2017 G
SSH2     AU4007301chr17:
28156737-28156737
AGintronicDe novo--Yuen2017 G
SSH2     3-0661-000chr17:
27986399-27986399
TCintronicDe novo--Yuen2017 G
SSH2     3-0140-000chr17:
28237594-28237594
TCintronicDe novo--Yuen2017 G
SSH2     AU4013301chr17:
28092403-28092403
CTintronicDe 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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