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Results for "SLC4A5"

Variant Events: 12

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
SLC4A5     09C81170chr2:
74483044-74483044
TCexonicDe novononsynonymous SNVNM_021196
NM_133478
c.A883G
c.A883G
p.M295V
p.M295V
15.29-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SLC4A5     AU2381302chr2:
74478593-74478593
CAintronicDe novo--Yuen2017 G
SLC4A5     AU003406chr2:
74459298-74459298
CAintronicDe novo--Yuen2017 G
SLC4A5     AU3057301chr2:
74460635-74460635
CTexonicDe novostopgainNM_021196
NM_133478
c.G2489A
c.G2489A
p.W830X
p.W830X
39.0-Yuen2017 G
SLC4A5     A21chr2:
74446872-74446872
TCintronicDe novo--Wu2018 G
SLC4A5     2-1359-004chr2:
74586340-74586340
TCintergenicDe novo--Yuen2017 G
SLC4A5     AU3368303chr2:
74584206-74584206
TCintergenicDe novo--Yuen2017 G
SLC4A5     AU4239301chr2:
74584894-74584894
CTintergenicDe novo--Yuen2017 G
SLC4A5     iHART1014chr2:
74454259-74454259
TCsplicingPaternalsplicing19.391.258E-5Ruzzo2019 G
SLC4A5     1-0563-003chr2:
74577247-74577247
TGintergenicDe novo--Yuen2017 G
SLC4A5     2-1330-003chr2:
74497724-74497724
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SLC4A5     MAC1188chr2:
74458313-74458313
GAintronicDe novo-8.355E-6Satterstrom2020 E
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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