Genomic variant #0000132647

Individual ID 00081807
Chromosome 7
Allele Parent #1
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.27224470_27224478del
DNA change (hg38) g.27184851_27184859del
Published as 286_294del (p.96_98del)
ISCN -
DB-ID HOXA11_000001
Variant remarks -
Reference PubMed: Wang 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HOXA11 NM_005523.5 -/. - c.289_297del r.(?) p.(Pro97_Ala99del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081937 DNA SEQ - - PTHLH 3 Guiomar Perez de Nanclares