Genomic variant #0000398614

Individual ID 00174859
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.[NC_000011.9:pter_46063697]delins[CTCCAAAT;106964377_qter]
DNA change (hg38) -
Published as -
ISCN t(1;11)(p21.1;p11.2)dn
DB-ID chr1_008060
Variant remarks -
Reference PubMed: Hyung-Goo 2012
ClinVar ID -
dbSNP ID -
Origin DUPLICATE record
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

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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