Variant #0000862500 (NC_000011.9:g.2906165_2906170dup, CDKN1C(NM_000076.2):c.567_572dup)

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.2906165_2906170dup
DNA change (hg38) -
Published as CDKN1C(NM_000076.2):c.572_573insTCCGGC (p.(Ala193_Pro194dup))
ISCN -
DB-ID CDKN1C_000132
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CDKN1C NM_000076.2 ?/. - c.567_572dup r.(?) p.(Ala193_Pro194dup) -
SLC22A18AS NM_007105.2 ?/. - c.*3257_*3262dup r.(=) p.(=) -
SLC22A18 NM_183233.2 ?/. - c.-15004_-14999dup r.(?) p.(=) -