Variant #0000965359 (NC_000009.11:g.21971156C>G, NM_000077.4:c.202G>C (CDKN2A))

Chromosome 9
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.21971156C>G
DNA change (hg38) -
Published as CDKN2A(NM_000077.4):c.202G>C (p.(Ala68Pro)), CDKN2A(NM_000077.5):c.202G>C (p.A68P), CDKN2A(NM_058195.4):c.245G>C (p.R82P)
ISCN -
DB-ID CDKN2A_000072 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-02-26 20:06:56 +01:00 (CET)
Date last edited 2024-10-29 21:08:56 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDKN2A NM_000077.4 +?/. - c.202G>C r.(?) p.(Ala68Pro)
CDKN2A NM_058195.3 +?/. - c.245G>C r.(?) p.(Arg82Pro)


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