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Results for "SIGLEC5"

Variant Events: 9

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
SIGLEC5       SP0053976chr19:
52132556-52132556
CAintronicDe novo--Trost2022 G
SIGLEC5       1-1182-003chr19:
52130543-52130543
CTintronicDe novo--Trost2022 G
SIGLEC5       13019.p1chr19:
52133140-52133140
CGexonicDe novononsynonymous SNVNM_003830c.G367Cp.G123R14.95-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE
SIGLEC5       SSC06029chr19:
52133140-52133140
CGexonicDe novononsynonymous SNVNM_003830c.G367Cp.G123R14.95-Fu2022 E
Lim2017 E
Trost2022 G
SIGLEC5       SSC02450chr19:
52132810-52132810
TGexonicDe novosynonymous SNVNM_003830c.A501Cp.P167P--Fu2022 E
SIGLEC5       mAGRE4400chr19:
52131124-52131125
CACexonicPaternalframeshift deletionNM_003830c.959delTp.L320fs-2.0E-4Cirnigliaro2023 G
SIGLEC5       mAGRE4184chr19:
52130905-52130905
GTexonicMaternalstopgainNM_003830c.C1092Ap.C364X20.69.167E-6Cirnigliaro2023 G
SIGLEC5       SP0055059chr19:
52132740-52132740
CTexonicDe novononsynonymous SNVNM_003830c.G571Ap.E191K8.021.364E-5Fu2022 E
Zhou2022 GE
SIGLEC5       SP0072351 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
Source Variant Information

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Source:

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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