Variant #0000261351 (NC_000017.10:g.63533789T>G, NM_004655.3:c.1365A>C (AXIN2))

Chromosome 17
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.63533789T>G
DNA change (hg38) g.65537671T>G
Published as AXIN2(NM_004655.3):c.1365A>C (p.P455=)
ISCN -
DB-ID AXIN2_000049
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_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-07-14 10:43:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AXIN2 NM_004655.3 ?/. - c.1365A>C r.(?) p.(Pro455=)


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