Variant #0000867910 (NC_000011.9:g.2906317G>A, CDKN1C(NM_000076.2):c.403C>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2906317G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CDKN1C_000133
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MobiDetails
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by MobiDetails
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CDKN1C NM_000076.2 +?/. - c.403C>T r.(?) p.(Gln135Ter) -