Variant #0000931886 (NC_000005.9:g.476498G>A, NC_000005.9(NM_004174.2):c.1891-5C>T (SLC9A3))

Individual ID 00435629
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.476498G>A
DNA change (hg38) g.476383G>A
Published as -
ISCN -
DB-ID SLC9A3_000012
Variant remarks -
Reference PubMed: Morleo 2023
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-08-06 22:57:46 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC9A3 NM_004174.2 ?/. - c.1891-5C>T r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000437110 DNA SEQ;SEQ-NG - WES - 2 Johan den Dunnen


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