Variant #0000994594 (NC_000005.9:g.127483327T>G, NM_001046.2:c.1787T>G (SLC12A2))

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.127483327T>G
DNA change (hg38) -
Published as SLC12A2(NM_001046.2):c.1787T>G (p.(Val596Gly))
ISCN -
DB-ID SLC12A2_000023
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-08-28 13:16:32 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC12A2 NM_001046.2 ?/. - c.1787T>G r.(?) p.(Val596Gly)


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