Variant #0000972020 (NC_000005.9:g.127450346A>G, NM_001046.2:c.1021A>G (SLC12A2))

Individual ID 00448507
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.127450346A>G
DNA change (hg38) g.128114654A>G
Published as -
ISCN -
DB-ID SLC12A2_000016
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Hina Khan
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Hina Khan
Date created 2024-03-18 08:48:00 +01:00 (CET)
Date last edited 2024-03-19 12:11:27 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC12A2 NM_001046.2 ?/. 4 c.1021A>G r.(?) p.(Ile341Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000450088 DNA SEQ-NG-I - - SLC12A2 1 Hina Khan


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