Variant #0000861818 (NC_000010.10:g.112359549_112359551del, NM_005445.3:c.2406_2408del (SMC3))

Chromosome 10
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.112359549_112359551del
DNA change (hg38) -
Published as SMC3(NM_005445.4):c.2406_2408delTGA (p.D802del)
ISCN -
DB-ID SMC3_000059
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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMC3 NM_005445.3 +/. - c.2406_2408del r.(?) p.(Asp802del)


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