Genomic variant #0000173954

Individual ID 00107627
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.68192690G>A
DNA change (hg38) g.68425222G>A
Published as 3357A>G (V1119V)
ISCN -
DB-ID LRP5_000036 See all 6 reported entries
Variant remarks -
Reference PubMed: Okubo 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 120/180 control chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.52649 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRP5 NM_002335.3 -/. 15 c.3357G>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108098 DNA SEQ;PCRdig - - LRP5 1 Johan den Dunnen