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Results for "SLC22A14"

Variant Events: 7

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
SLC22A14     AU006804chr3:
38351446-38351446
GAintronicDe novo--Yuen2017 G
SLC22A14     iHART1340chr3:
38347752-38347754
ATGAexonicMaternalframeshift deletionNM_004803c.236_237delp.M79fs-8.237E-6Ruzzo2019 G
SLC22A14     1-0595-005chr3:
38348670-38348670
CTintronicDe novo--Yuen2017 G
SLC22A14     AU1542303chr3:
38379095-38379095
CTintergenicDe novo--Yuen2017 G
SLC22A14     7-0167-003chr3:
38353593-38353593
GAintronicDe novo--Yuen2017 G
SLC22A14     12523.p1chr3:
38349069-38349069
CTexonicMosaicsynonymous SNVNM_004803c.C633Tp.Y211Y-1.0E-4Dou2017 E
Krupp2017 E
SLC22A14     iHART1050chr3:
38350451-38350452
AGAexonicMaternalframeshift deletionNM_004803c.783delGp.E261fs-1.661E-5Ruzzo2019 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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