Variant #0000039609 (NC_000017.10:g.56296014dup, NM_017777.3:c.157dup (MKS1))

Individual ID 00019407
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.56296014dup
DNA change (hg38) g.58218653dup
Published as -
ISCN -
DB-ID MKS1_000026 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Hester Y. Kroes
Database submission license No license selected
Created by Hester Y. Kroes
Date created 2014-07-24 15:59:55 +02:00 (CEST)
Date last edited 2016-01-08 05:39:51 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKS1 NM_017777.3 +/. 2 c.157dup r.(?) p.(Asp53Glyfs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019392 DNA SEQ-NG-S - - - 1 Hester Y. Kroes


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.