Variant #0000000231 (NC_000011.9:g.47469631G>T, RAPSN(NM_005055.3):c.264C>A)

Individual ID 00000005
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.47469631G>T
DNA change (hg38) g.47448079G>T
Published as -
ISCN -
DB-ID RAPSN_000002 See all 164 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00155 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAPSN NM_005055.3 ?/. - c.264C>A r.(?) p.(Asn88Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000005 DNA SEQ-NG - - ACADM, ATP7B, CFTR, ETFB, GLB1, MEFV, NHLRC1, PKHD1, RAPSN, SERPINA1, SLC26A2, USH2A 12 Global Variome, with Curator vacancy