Variant #0000681859 (NC_000022.10:g.32495283_32495284insT, NM_000343.3:c.1394_1395insT (SLC5A1))

Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.32495283_32495284insT
DNA change (hg38) -
Published as SLC5A1(NM_000343.4):c.1394_1395insT (p.P466Tfs*17)
ISCN -
DB-ID SLC5A1_000008
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC5A1 NM_000343.3 +/. - c.1394_1395insT r.(?) p.(Pro466ThrfsTer17)


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