Genomic variant #0000001800

Individual ID 00016252
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.41748043T>C
Reference -
DB-ID PHOX2B_000001 See all 14 reported entries
dbSNP ID rs757355779
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 0.00243
Allele Count 14
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.726A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000044 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou