Genomic variant #0000016635

Chromosome 17
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.56292121G>A
DNA change (hg38) -
Published as p.Arg166Trp
ISCN -
DB-ID MKS1_000021
Variant remarks 1 Finnish MKS1 family (com-het)
Reference PubMed: Tallila et al. 2009
dbSNP ID rs201845154
Germline/Somatic/De novo SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.0004 View details
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
MKS1 NM_017777.3 +?/+? 6i c.496C>T - r.(496c>u) p.(Arg166Trp)