Variant #0000321972 (NC_000011.9:g.2909523C>T, CDKN1C(NM_000076.2):c.-2804G>A)

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.2909523C>T
DNA change (hg38) g.2888293C>T
Published as SLC22A18AS(NM_007105.2):c.649G>A (p.(Gly217Ser))
ISCN -
DB-ID SLC22A18AS_000010
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) 0.00029 View details
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.-2804G>A r.(?) p.(=) -
SLC22A18AS NM_007105.2 ?/. - c.649G>A r.(?) p.(Gly217Ser) -
SLC22A18 NM_183233.2 ?/. - c.-11646C>T r.(?) p.(=) -