Variant #0000259684 (NC_000019.9:g.3907815G>A, ATCAY(NM_033064.4):c.442G>A)

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.3907815G>A
DNA change (hg38) g.3907817G>A
Published as ATCAY(NM_033064.4):c.442G>A (p.A148T)
ISCN -
DB-ID ATCAY_000006 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00018 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATCAY NM_033064.4 ?/. - c.442G>A r.(?) p.(Ala148Thr)