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Results for "SLC4A1"

Variant Events: 10

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
SLC4A1     1-0652-003chr17:
42337693-42337693
CTintronicDe novo--Yuen2017 G
SLC4A1     3-0169-000chr17:
42335477-42335477
GAexonicDe novononsynonymous SNVNM_000342c.C1159Tp.R387W13.294.127E-5Yuen2016 G
SLC4A1     14035.p1chr17:
42331926-42331929
AAACAexonicDe novononframeshift deletionNM_000342c.1992_1994delp.664_665del--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SLC4A1     1-0487-003chr17:
42350116-42350116
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC4A1     12444.p1chr17:
42334859-42334859
GAexonicDe novosynonymous SNVNM_000342c.C1485Tp.F495F-1.652E-5Krumm2015 E
SLC4A1     AU2072302chr17:
42368092-42368098
ATTTTTTATTTTTTTintergenicDe novo--Yuen2017 G
SLC4A1     SJD_50chr17:
42335140-42335140
GCexonicMaternalnonsynonymous SNVNM_000342c.C1318Gp.L440V17.271.653E-5Toma2013 E
SLC4A1     09C88928chr17:
42340237-42340237
CTUTR5De novo-4.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
SLC4A1     EGAN00001100925chr17:
42337759-42337759
CTintronicDe novo--Satterstrom2020 E
SLC4A1     2-1386-003chr17:
42359321-42359321
GCintergenicDe novo--Yuen2017 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
Curation notesView
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