Variant #0000405193 (NC_000019.9:g.10395683A>G, ICAM1(NM_000201.2):c.1405A>G)

Individual ID 00180560
Chromosome 19
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.10395683A>G
DNA change (hg38) g.10285007A>G
Published as -
ISCN -
DB-ID ICAM1_000003 See all 2 reported entries
Variant remarks for details see the Uveogene database
Reference PubMed: Park 2003
ClinVar ID -
dbSNP ID rs5498
Origin Germline
Segregation -
Frequency 160/394 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.43895 View details
Owner Peizeng Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ICAM1 NM_000201.2 ./. - c.1405A>G r.(?) p.(Lys469Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181497 DNA arraySNP Blood - ICAM1 1 Peizeng Yang