Genomic variant #0000086046

Individual ID 00056053
Chromosome 17
Allele Parent #1
Affects function (reported) Affects function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56293606T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID MKS1_000031
Variant remarks -
Reference PubMed: Watson 2016, Journal: Watson 2016
dbSNP ID -
Germline/Somatic/De novo Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Christopher Watson




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
MKS1 NM_017777.3 +/. 3i c.262-2A>G - r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056008 DNA SEQ-NG - - - 1 Christopher Watson