Variant #0001030013 (NC_000006.11:g.170893588G>A, NM_002598.3:c.82C>T (PDCD2))

Individual ID 00464522
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method other
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.170893588G>A
DNA change (hg38) g.170584500G>A
Published as -
ISCN -
DB-ID PDCD2_000001 See all 5 reported entries
Variant remarks -
Reference Landry-Voyer et al - 2024 submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Tess Holling
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Tess Holling
Date created 2025-03-21 09:20:08 +01:00 (CET)
Date last edited 2025-03-24 14:57:20 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDCD2 NM_002598.3 +/. 1 c.82C>T r.82C>T p.(Pro28Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000466160 DNA SEQ - - PDCD2 2 Tess Holling


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