Variant #0000521064 (NC_000004.11:g.103578894C>T, MANBA(NM_005908.3):c.1649G>A)

Chromosome 4
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.103578894C>T
DNA change (hg38) g.102657737C>T
Published as MANBA(NM_005908.3):c.1649G>A (p.R550Q, p.(Arg550Gln))
ISCN -
DB-ID MANBA_000012 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MANBA NM_005908.3 ?/. - c.1649G>A r.(?) p.(Arg550Gln)