Variant #0000520471 (NC_000003.11:g.56696435G>A, NM_001141947.1:c.*40789G>A (CCDC66))

Chromosome 3
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.56696435G>A
DNA change (hg38) g.56662407G>A
Published as FAM208A(NM_001112736.1):c.1138C>T (p.R380C)
ISCN -
DB-ID CCDC66_000006
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
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FAM208A NM_001112736.1 ?/. - c.1138C>T r.(?) p.(Arg380Cys)
CCDC66 NM_001141947.1 ?/. - c.*40789G>A r.(=) p.(=)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.