Genomic variant #0000016632

Chromosome 17
Allele Both (homozygous)
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.56284444delA
DNA change (hg38) -
Published as c.1407+2delT: destructs donor splice site
ISCN -
DB-ID MKS1_000018
Variant remarks destroys donor splice site; 1 Turkish MKS1 family (hom)
Reference PubMed: Frank et al. 2007
dbSNP ID -
Germline/Somatic/De novo SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
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 +?/+? 16i c.1407+2delT - r.spl? p.?