Genomic variant #0000173955

Individual ID 00107628
Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68201040G>A
DNA change (hg38) g.68433572G>A
Published as IVS17-30G>A
ISCN -
DB-ID LRP5_000038 See all 3 reported entries
Variant remarks -
Reference PubMed: Okubo 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 27/194 control chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
LRP5 NM_002335.3 -/. 17i c.3764-30G>A - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108099 DNA SEQ;PCRdig - - LRP5 1 Johan den Dunnen