Genomic variant #0000016624

Chromosome 17
Allele Both (homozygous)
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.56285921G>A
DNA change (hg38) -
Published as c.1048C>T: p.Q350X
ISCN -
DB-ID MKS1_000010
Variant remarks 1 Palestinian MKS1 family (hom)
Reference PubMed: Khaddour 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 +/+ 13 c.1048C>T - r.(1048c>u) p.(Gln350*)