Genomic variant #0000022053

Individual ID 00017224
Chromosome 4
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.41747993_41748013del
Reference -
DB-ID PHOX2B_000012 See all 5 reported entries
dbSNP ID rs17879189
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.0012
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHOX2B NM_003924.3 ./. - c.756_776del r.(?) p.(Ala254_Ala260del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000883 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou