Variant #0000905225 (NC_000011.9:g.2906512_2906513delinsTT, CDKN1C(NM_000076.2):c.207_208delinsAA)

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.2906512_2906513delinsTT
DNA change (hg38) -
Published as -
ISCN -
DB-ID CDKN1C_000135
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
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
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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.207_208delinsAA r.(?) p.(Met69_Pro70delinsIleThr) -