Variant #0000308492 (NC_000005.9:g.1443171_1443179del, SLC6A3(NM_001044.4):c.137_145del)

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.1443171_1443179del
DNA change (hg38) g.1443056_1443064del
Published as SLC6A3(NM_001044.4):c.137_145delCCCTCACCA (p.T46_T48del)
ISCN -
DB-ID SLC6A3_000043
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A3 NM_001044.4 ?/. - c.137_145del r.(?) p.(Thr46_Thr48del)