Variant #0000435656 (NC_000010.10:g.92679041G>A, NC_000010.10(NM_014391.2):c.208-16C>T (ANKRD1))

Individual ID 00205207
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.92679041G>A
DNA change (hg38) g.90919284G>A
Published as IVS2-16C>T
ISCN -
DB-ID ANKRD1_000015 See all 5 reported entries
Variant remarks found in control chromosomes (600-800)
Reference PubMed: Arimura 2009
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00507 View details
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 2018-11-10 18:11:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANKRD1 NM_014391.2 -/. 2i c.208-16C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206236 DNA SEQ - - ANKRD1 1 Johan den Dunnen


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