Genomic variant #0000132342

Individual ID 00000018
Chromosome 4
Allele Maternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41747990_41748004del
DNA change (hg38) g.41745973_41745987del
Published as -
ISCN -
DB-ID PHOX2B_000030 See all 4 reported entries
Variant remarks -
Reference PubMed: Arai 2007, Journal: Arai 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
PHOX2B NM_003924.3 -/- 3 c.765_779del Ala-15 - r.(?) p.(Ala256_Ala260del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000018 DNA SEQ-NG - - ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1 15 LOVD-team, but with Curator vacancy