Genomic variant #0000025185

Individual ID 00017547
Chromosome 4
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41747993_41748031del
Reference -
DB-ID PHOX2B_000008 See all 3 reported entries
dbSNP ID rs757020181
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 0.00052
Allele Count 3
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.738_776del r.(?) p.(Ala248_Ala260del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001194 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou