Variant #0000613319 (NC_000011.9:g.2909512_2909513insTGGGGGGGG, CDKN1C(NM_000076.2):c.-2787_-2786insCACCCCCCC)

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.2909512_2909513insTGGGGGGGG
DNA change (hg38) g.2888282_2888283insTGGGGGGGG
Published as SLC22A18AS(NM_007105.2):c.666_667insCACCCCCCC (p.(Pro222_Asn223insHisProPro))
ISCN -
DB-ID CDKN1C_000116
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.-2787_-2786insCACCCCCCC r.(?) p.(=) -
SLC22A18AS NM_007105.2 ?/. - c.666_667insCACCCCCCC r.(?) p.(Pro222_Asn223insHisProPro) -
SLC22A18 NM_183233.2 ?/. - c.-11657_-11656insTGGGGGGGG r.(?) p.(=) -