Variant #0000811223 (NC_000020.10:g.10393439C>A, MKKS(NM_170784.2):c.724G>T)

Individual ID 00383296
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.10393439C>A
DNA change (hg38) -
Published as BBS6: c.72>G>T
ISCN -
DB-ID MKKS_000016 See all 22 reported entries
Variant remarks -
Reference PubMed: Duelund Hjortshoj-2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00523 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 -?/. 3 c.724G>T r.(?) p.(Ala242Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000384520 DNA;RNA DHPLC;arraySNP;RT-PCR blood - MKKS 3 LOVD