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Results for "SLC9A4"

Variant Events: 14

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
SLC9A4     A12chr2:
103158612-103158612
TCintergenicDe novo--Wu2018 G
SLC9A4     AU3637301chr2:
103098760-103098760
CTintronicDe novo--Yuen2017 G
SLC9A4     1-0079-003chr2:
103123263-103123270
CTCAACATCintronicDe novo--Yuen2017 G
SLC9A4     iHART2168chr2:
103148830-103148832
AGCAexonicPaternalframeshift deletionNM_001011552c.2081_2082delp.S694fs-1.651E-5Ruzzo2019 G
SLC9A4     AU4263304chr2:
103159126-103159126
AGintergenicDe novo--Yuen2017 G
SLC9A4     AU4269301chr2:
103126234-103126234
TAintronicDe novo--Yuen2017 G
SLC9A4     iHART1787chr2:
103095690-103095691
GAGexonicMaternalframeshift deletionNM_001011552c.650delAp.E217fs--Ruzzo2019 G
SLC9A4     AU2248301chr2:
103166145-103166145
GAintergenicDe novo--Yuen2017 G
SLC9A4     2-1288-003chr2:
103219925-103219925
GAintergenicDe novo--Yuen2017 G
SLC9A4     Codina-Sola2015:ASD_29chr2:
103130607-103130607
ATexonicPaternalstopgainNM_001011552c.A1618Tp.K540X42.0-Codina-Sola2015 E
SLC9A4     AU4056302chr2:
103128144-103128144
ACintronicDe novo--Yuen2017 G
SLC9A4     1-0495-003chr2:
103169364-103169364
CAintergenicDe novo--Yuen2017 G
SLC9A4     AU4315302chr2:
103164620-103164620
CTintergenicDe novo--Yuen2017 G
SLC9A4     1-0007-003chr2:
103201998-103201998
TAintergenicDe 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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