Variant #0000332337 (NC_000008.10:g.144511981_144511983del, MAFA(NM_201589.3):c.621_623del)

Chromosome 8
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.144511981_144511983del
DNA change (hg38) g.143429811_143429813del
Published as MAFA(NM_201589.3):c.618_620del (p.?)
ISCN -
DB-ID MAFA_000001
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAFA NM_201589.3 ?/. - c.621_623del r.(?) p.(His208del)