Genomic variant #0000016620

Chromosome 17
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.56296510A>G
DNA change (hg38) -
Published as IVS1+2T>C: affects splicing
ISCN -
DB-ID MKS1_000006
Variant remarks affects splicing;1 German MKS1 family (com-het)
Reference PubMed: Kyttälä et al. 2006
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 +?/+? 2 c.80+2T>C - r.spl? p.?