Variant #0000291320 (NC_000016.9:g.79633795G>T, MAF(NM_001031804.2):c.5C>A)

Chromosome 16
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.79633795G>T
DNA change (hg38) g.79599898G>T
Published as MAF(NM_001031804.2):c.5C>A (p.A2E)
ISCN -
DB-ID MAF_000023
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) 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     
MAF NM_001031804.2 ?/. - c.5C>A r.(?) p.(Ala2Glu)
MAF NM_005360.4 ?/. - c.5C>A r.(?) p.(Ala2Glu)