Variant #0000398615 (NC_000011.9:g.[NC_000001.10:pter_106964376]delins46063698_qter, PHF21A(NM_001101802.1):c.?::insATTTGGAG;153+34610)

Individual ID 00174859
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.[NC_000001.10:pter_106964376]delins46063698_qter
DNA change (hg38) -
Published as -
ISCN t(1;11)(p21.1;p11.2)dn
DB-ID PHF21A_000011
Variant remarks -
Reference PubMed: Hyung-Goo 2012
ClinVar ID -
dbSNP ID -
Origin DUPLICATE record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-08-13 16:44:17 +02:00 (CEST)
Date last edited 2020-05-12 19:21:26 +02:00 (CEST)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHF21A NM_001101802.1 +/. 5i c.?::insATTTGGAG;153+34610 r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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