Variant #0000132341 (NC_000004.11:g.41748001_41748015del, PHOX2B(NM_003924.3):c.765_779del)

Individual ID 00000017
Chromosome 4
Allele Maternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41748001_41748015del
DNA change (hg38) g.41745984_41745998del
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 (gnomAD v.2.1.1) 0.00076 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

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     
0000000017 DNA SEQ-NG - - ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1 14 Global Variome, with Curator vacancy