Variant #0000446305 (NC_000011.9:g.47460306A>G, NM_005055.4:c.1143T>C (RAPSN))

Individual ID 00213227
Chromosome 11
Allele Paternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47460306A>G
DNA change (hg38) g.47438755A>G
Published as -
ISCN -
DB-ID RAPSN_000007 See all 45 reported entries
Variant remarks -
Reference PubMed: Ohno 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.66407 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-11-05 12:10:30 +01:00 (CET)
Date last edited 2019-01-12 17:43:38 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAPSN NM_005055.4 -/- 7 c.1143T>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214297 DNA SEQ - - RAPSN 10 Johan den Dunnen


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