Variant #0000909828 (NC_000005.9:g.127512802G>A, NM_001046.2:c.2935G>A (SLC12A2))

Individual ID 00428680
Chromosome 5
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.127512802G>A
DNA change (hg38) g.128177110G>A
Published as -
ISCN -
DB-ID SLC12A2_000012
Variant remarks -
Reference PubMed: Wonkam 2022
ClinVar ID -
dbSNP ID rs1581138934
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yacouba Dia
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Yacouba Dia
Date created 2023-01-06 16:25:23 +01:00 (CET)
Date last edited 2023-02-10 09:29:49 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC12A2 NM_001046.2 +/. - c.2935G>A r.(?) p.(Glu979Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000430093 DNA SEQ;SEQ-NG-I Blood WES - 1 Yacouba Dia


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