Genomic variant #0000021743

Individual ID 00017151
Chromosome 4
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.41748020_41748040del
Reference -
DB-ID PHOX2B_000016
dbSNP ID rs772448418
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHOX2B NM_003924.3 ?/? - c.729_749del r.(?) p.(Ala254_Ala260del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000855 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou