Variant #0000725982 (NC_000016.9:g.79628385C>T, MAF(NM_001031804.2):c.*4293G>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.79628385C>T
DNA change (hg38) -
Published as MAF(NM_005360.4):c.1184G>A (p.R395H)
ISCN -
DB-ID MAF_000032
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) Variant not found in online data sets
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.*4293G>A r.(=) p.(=)
MAF NM_005360.4 ?/. - c.1184G>A r.(?) p.(Arg395His)