Genomic variant #0000016622

Chromosome 17
Allele Maternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.56288019C>T
DNA change (hg38) -
Published as IVS11+1G>A: 959del66: V320_H342delinsD
ISCN -
DB-ID MKS1_000008
Variant remarks 1 Caucasian-African-American MKS1 family (com-het)
Reference PubMed: Consugar_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 +?/+? 12i c.1024+1G>A - r.(959_1024del) p.(Val320_His342delinsAsp)