Variant #0000251801 (NC_000011.9:g.2906165A>G, CDKN1C(NM_000076.2):c.555T>C)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2906165A>G
DNA change (hg38) g.2884935A>G
Published as CDKN1C(NM_000076.2):c.537_555delCCCGGCCCCGGCCCCGGCTinsCCCGGCCCCGGCCCCGGCC (p.A179_A185=), CDKN1C(NM_000076.2):c.549_555delCCCGGCTinsCCCGGCC (p.A18...)
ISCN -
DB-ID CDKN1C_000068 See all 2 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) 0.22034 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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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.555T>C r.(?) p.(Ala185=) -
SLC22A18AS NM_007105.2 -?/. - c.*3245T>C r.(=) p.(=) -
SLC22A18 NM_183233.2 -?/. - c.-15004A>G r.(?) p.(=) -