Variant #0000832868 (NC_000002.11:g.25384351_25384352dup, NM_000939.2:c.403_404dup (POMC))

Individual ID 00398859
Chromosome 2
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.25384351_25384352dup
DNA change (hg38) g.25161482_25161483dup
Published as 7100ins2G
ISCN -
DB-ID POMC_000021
Variant remarks -
Reference PubMed: Krude 2003
ClinVar ID -
dbSNP ID rs796065035
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-01-13 17:38:38 +01:00 (CET)
Date last edited 2022-01-13 17:44:28 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMC NM_000939.2 +/. - c.403_404dup r.(?) p.(Lys136Alafs*23)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400101 DNA SEQ - - POMC 2 Johan den Dunnen


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