or
or
Exact

Results for "SLC12A6"

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
SLC12A6     21852-36011chr15:
34538036-34538036
AGexonicInheritednonsynonymous SNVNM_001042497
NM_005135
NM_133647
NM_001042494
NM_001042495
NM_001042496
c.T1637C
c.T1529C
c.T1682C
c.T1505C
c.T1505C
c.T1655C
p.V546A
p.V510A
p.V561A
p.V502A
p.V502A
p.V552A
17.96-Callaghan2019 G
SLC12A6     AU4079302chr15:
34600845-34600849
AAAAAAAAAACAAAAintronicDe novo--Yuen2017 G
SLC12A6     PN400133chr15:
34610813-34610815
CTTCexonicUnknownframeshift deletionNM_005135c.65_66delp.Q22fs--Leblond2019 E
SLC12A6     1-0330-004chr15:
34628677-34628677
AGexonicDe novononsynonymous SNVNM_001042497
NM_133647
NM_001042494
NM_001042495
NM_001042496
c.T205C
c.T205C
c.T28C
c.T28C
c.T178C
p.S69P
p.S69P
p.S10P
p.S10P
p.S60P
12.8-Yuen2015 G
Yuen2017 G
SLC12A6     1-0294-003chr15:
34583530-34583530
TCintronicDe novo--Yuen2017 G
SLC12A6     2-1567-003chr15:
34587196-34587196
ATintronicDe novo--Yuen2017 G
SLC12A6     AU4347301chr15:
34565769-34565769
TCintronicDe novo--Yuen2017 G
SLC12A6     20-1301909-05chr15:
34529580-34529580
GAintronicDe novo--Satterstrom2020 E
SLC12A6     AU1448301chr15:
34588755-34588755
CTintronicDe novo--Yuen2017 G
SLC12A6     AU3399303chr15:
34536215-34536215
GAexonicDe novostopgainNM_001042497
NM_005135
NM_133647
NM_001042494
NM_001042495
NM_001042496
c.C1957T
c.C1849T
c.C2002T
c.C1825T
c.C1825T
c.C1975T
p.R653X
p.R617X
p.R668X
p.R609X
p.R609X
p.R659X
39.0-Yuen2017 G
SLC12A6     14526.p1chr15:
34547613-34547613
GAintronicDe novo-8.441E-6Krumm2015 E
Satterstrom2020 E
SLC12A6     NP157chr15:
34553104-34553104
CTintronicDe novo--Satterstrom2020 E
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