Variant #0000827123 (NC_000020.10:g.10393567_10393568del, MKKS(NM_170784.2):c.595_596del)

Individual ID 00394477
Chromosome 20
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.10393567_10393568del
DNA change (hg38) -
Published as BBS6:c.595_596delAG
ISCN -
DB-ID MKKS_000132 See all 2 reported entries
Variant remarks -
Reference PubMed: Jeziorny-2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 +/. 3 c.595_596del r.(?) p.(Ser199Phefs*22)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000395724 DNA SEQ-NG blood - MKKS 2 LOVD