Variant #0000541589 (NC_000010.10:g.92678977C>G, NM_014391.2:c.256G>C (ANKRD1))

Chromosome 10
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.92678977C>G
DNA change (hg38) g.90919220C>G
Published as ANKRD1(NM_014391.2):c.256G>C (p.D86H), ANKRD1(NM_014391.3):c.256G>C (p.D86H)
ISCN -
DB-ID ANKRD1_000046 See all 3 reported entries
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) 0.00033 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +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 -?/. - c.256G>C r.(?) p.(Asp86His)


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