Variant #0000321955 (NC_000011.9:g.2906175_2906186del, CDKN1C(NM_000076.2):c.543_554del)

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.2906175_2906186del
DNA change (hg38) g.2884945_2884956del
Published as CDKN1C(NM_000076.2):c.543_554del (p.(Ala191_Pro194del)), CDKN1C(NM_000076.2):c.543_554delCCCGGCCCCGGC (p.A191_P194del)
ISCN -
DB-ID CDKN1C_000046 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CDKN1C NM_000076.2 ?/. - c.543_554del r.(?) p.(Ala191_Pro194del) -
SLC22A18AS NM_007105.2 ?/. - c.*3233_*3244del r.(=) p.(=) -
SLC22A18 NM_183233.2 ?/. - c.-14994_-14983del r.(?) p.(=) -