Variant #0000658567 (NC_000019.9:g.3905575A>T, ATCAY(NM_033064.4):c.280A>T)

Chromosome 19
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.3905575A>T
DNA change (hg38) g.3905577A>T
Published as ATCAY(NM_033064.4):c.280A>T (p.N94Y)
ISCN -
DB-ID ATCAY_000021
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATCAY NM_033064.4 ?/. - c.280A>T r.(?) p.(Asn94Tyr)