Variant #0000435670 (NC_000010.10:g.(92677588_92678621)[del26], NM_014391.2:c.(453+1_454-1)[del26] (ANKRD1))

Individual ID 00205221
Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.(92677588_92678621)[del26]
DNA change (hg38) -
Published as (453+1_457-1)del26
ISCN -
DB-ID ANKRD1_000000 See all 5 reported entries
Variant remarks -
Reference PubMed: Meyer 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-04-17 10:20:00 +02:00 (CEST)
Date last edited 2019-08-17 09:24:56 +02:00 (CEST)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANKRD1 NM_014391.2 -/. 4i c.(453+1_454-1)[del26] r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206250 DNA SEQ - - ANKRD1 1 Johan den Dunnen


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