Variant #0000933853 (NC_000016.9:g.56903992G>A, NC_000016.9(NM_000339.2):c.602-16G>A (SLC12A3))

Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.56903992G>A
DNA change (hg38) g.56870080G>A
Published as -
ISCN -
DB-ID SLC12A3_000044 See all 4 reported entries
Variant remarks in vitro midigene splicing assay; suggested clinical classification variant “likely pathogenic"
Reference PubMed: Viering 2023, Journal: Viering 2023
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-10-06 17:19:51 +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     
SLC12A3 NM_000339.2 +/. 4i c.602-16G>A r.[601_621ins602-14_601-1,601_602ins[601+1_602-17;a;602-15_602-1]] p.?


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