or
or
Exact

Results for "SGCA"

Variant Events: 14

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
SGCA     SP0119199chr17:
48244916-48244916
CTintronicDe novo--Fu2022 E
SGCA     SP0005811chr17:
48244953-48244953
CTexonicDe novosynonymous SNVNM_000023
NM_001135697
c.C168T
c.C168T
p.P56P
p.P56P
--Fu2022 E
Trost2022 G
Zhou2022 GE
SGCA     AU3692302chr17:
48245831-48245831
TTGexonicMaternalframeshift insertionNM_000023
NM_001135697
c.483dupG
c.483dupG
p.L161fs
p.L161fs
--Cirnigliaro2023 G
SGCA     11490.p1chr17:
48244910-48244910
GTintronicDe novo--Satterstrom2020 E
SGCA     AU3692301chr17:
48245831-48245831
TTGexonicMaternalframeshift insertionNM_000023
NM_001135697
c.483dupG
c.483dupG
p.L161fs
p.L161fs
--Cirnigliaro2023 G
SGCA     JASD_Fam0191chr17:
48247675-48247675
CTexonicDe novosynonymous SNVNM_000023c.C919Tp.L307L9.55-Takata2018 E
SGCA     3-0019-000chr17:
48246822-48246822
CAintronicDe novo--Trost2022 G
SGCA     iHART3141chr17:
48245831-48245831
TTGexonicMaternalframeshift insertionNM_000023
NM_001135697
c.483dupG
c.483dupG
p.L161fs
p.L161fs
--Ruzzo2019 G
SGCA     REACH000735chr17:
48248257-48248257
CAintronicDe novo--Trost2022 G
SGCA     SP0005811chr17:
48244668-48244668
CGintronicDe novo--Trost2022 G
SGCA     2-1178-003chr17:
48256035-48256035
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
SGCA     SSC00357chr17:
48244910-48244910
GTintronicDe novo--Trost2022 G
SGCA     2-0112-005chr17:
48243558-48243558
AGintronicDe novo--Trost2022 G
SGCA     iHART3142chr17:
48245831-48245831
TTGexonicMaternalframeshift insertionNM_000023
NM_001135697
c.483dupG
c.483dupG
p.L161fs
p.L161fs
--Ruzzo2019 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