Genomic variant #0000016634

Chromosome 17
Allele Parent #1
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.56293473_56293474delAG
DNA change (hg38) -
Published as 392_393delCT (Ser131X)
ISCN -
DB-ID MKS1_000020
Variant remarks 1 Finnish MKS1 family (com-het)
Reference PubMed: Tallila et al. 2009
dbSNP ID -
Germline/Somatic/De novo SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
MKS1 NM_017777.3 +/+ 5 c.392_393del - r.(392_393del) p.(Ser131*)