Variant #0000000685 (NC_000019.9:g.14029269A>C, NC_000019.9(NM_017721.4):c.874-48A>C (CC2D1A))

Individual ID 00000029
Chromosome 19
Allele Parent #1
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.14029269A>C
DNA change (hg38) g.13918456A>C
Published as -
ISCN -
DB-ID CC2D1A_000001
Variant remarks -
Reference PubMed: Almomani 2011 {dbSNP:2305776}
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.27536 View details
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2012-05-01 14:55:33 +02:00 (CEST)
Date last edited 2018-08-25 06:37:56 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CC2D1A NM_017721.4 ?/. - c.874-48A>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000029 DNA SEQ-NG - - ALG9, ASPM, B3GLCT, BBS1, CBS, CC2D1A, CDK5RAP2, DLG3, DNMT3B, DPM1, DPP3, GLI3, JAG1, KRAS, MECP2, MPDU1, NLGN4X, NSD1, PHF8, PMM2, RAI1, REST, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41 45 Global Variome, with Curator vacancy


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