Variant #0000283684 (NC_000020.10:g.10388388del, MKKS(NM_170784.2):c.1162-12del)

Chromosome 20
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10388388del
DNA change (hg38) g.10407740del
Published as MKKS(NM_018848.3):c.1162-12delG
ISCN -
DB-ID MKKS_000056
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 -?/. 4i c.1162-12del r.(=) p.(=)