Variant #0000367748 (NC_000011.9:g.47469717G>A, NC_000011.9(NM_005055.4):c.193-15C>T (RAPSN))

Individual ID 00163650
Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47469717G>A
DNA change (hg38) g.47448165G>A
Published as -
ISCN -
DB-ID RAPSN_000029 See all 16 reported entries
Variant remarks -
Reference -
ClinVar ID 259627
dbSNP ID rs45547231
Origin Unknown
Segregation ?
Frequency 0.15 controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.10665 View details
Owner Florian Erger
Database submission license No license selected
Created by Florian Erger
Date created 2018-04-03 17:36:29 +02:00 (CEST)
Date last edited 2019-01-12 17:43:38 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAPSN NM_005055.4 -/. 1i c.193-15C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164515 DNA SEQ-NG-I Umbilical cord - CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, MTM1, MUSK, NALCN, RAPSN, UBA1 26 Florian Erger


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