Genomic variant #0000398613

Individual ID 00174859
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.pter_46063697delins[CTCCAAAT;NC_000001.10:106964377_qter]
DNA change (hg38) -
Published as -
ISCN t(1;11)(p21.1;p11.2)dn
DB-ID PHF21A_000010
Variant remarks -
Reference PubMed: Hyung-Goo 2012
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHF21A NM_001101802.1 +/. 5i c.153+34607::? r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175750 DNA FISH;PCR;SEQ - - PHF21A 4 Johan den Dunnen