Genomic variant #0000039603

Individual ID 00019403
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56293485delG
DNA change (hg38) g.58216124delG
Published as -
ISCN -
DB-ID MKS1_000025
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Hester Y. Kroes




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MKS1 NM_017777.3 +/. 4 c.381delC - r.(?) p.(Tyr128Thrfs*17)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019388 DNA SEQ-NG-I - - - 2 Hester Y. Kroes