Variant #0000269943 (NC_000011.9:g.2906114_2906119del, CDKN1C(NM_000076.2):c.624_629del)

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2906114_2906119del
DNA change (hg38) g.2884884_2884889del
Published as CDKN1C(NM_000076.2):c.624_629delGGCCCC (p.A215_P216del)
ISCN -
DB-ID CDKN1C_000065
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_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.624_629del r.(?) p.(Ala215_Pro216del) -
SLC22A18AS NM_007105.2 -/. - c.*3314_*3319del r.(=) p.(=) -
SLC22A18 NM_183233.2 -/. - c.-15055_-15050del r.(?) p.(=) -