Genomic variant #0000000666

Individual ID 00000044
Chromosome 17
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56290372C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID MKS1_000002
Variant remarks -
Reference -
dbSNP ID -
Germline/Somatic/De novo Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
MKS1 NM_017777.3 +/. 8 c.829G>T - r.(?) p.(Glu277*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000044 DNA NGS - - ASS1, ATP7B, DPYD, ETFB, GCDH, GLB1, HADHA, HGSNAT, IGHMBP2, KCNQ2, MKS1, MYO5A 12 LOVD-team, but with Curator vacancy