Genomic variant #0000016102

Individual ID 00000210
Chromosome 17
Allele Both (homozygous)
Affects function (reported) Affects function
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.56295987T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID MKS1_000003
Variant remarks -
Reference -
dbSNP ID -
Germline/Somatic/De novo Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Leen Abu Safieh




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
MKS1 NM_017777.3 +/? 2 c.184A>G - r.(?) p.(Thr62Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000211 DNA SEQ - - MKS1 1 Leen Abu Safieh