Variant #0000691044 (NC_000011.9:g.2906195G>C, CDKN1C(NM_000076.2):c.525C>G)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2906195G>C
DNA change (hg38) -
Published as CDKN1C(NM_000076.2):c.525C>G (p.V175=)
ISCN -
DB-ID CDKN1C_000124
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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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.525C>G r.(?) p.(Val175=) -
SLC22A18AS NM_007105.2 -?/. - c.*3215C>G r.(=) p.(=) -
SLC22A18 NM_183233.2 -?/. - c.-14974G>C r.(?) p.(=) -