Variant #0000969355 (NC_000018.9:g.28725734G>A, NM_004949.3:c.-43800C>T (DSC2))

Chromosome 18
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.28725734G>A
DNA change (hg38) -
Published as DSC1(NM_024421.2):c.779C>T (p.S260L)
ISCN -
DB-ID DSC1_000012
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) 0 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2024-02-26 20:06:56 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DSC1 NM_004948.3 ?/. - c.779C>T r.(?) p.(Ser260Leu) -
DSC2 NM_004949.3 ?/. - c.-43800C>T r.(?) p.(=) -


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