Variant #0000608952 (NC_000004.11:g.103595149C>T, MANBA(NM_005908.3):c.1039G>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.103595149C>T
DNA change (hg38) g.102673992C>T
Published as MANBA(NM_005908.3):c.1039G>A (p.G347R)
ISCN -
DB-ID MANBA_000031
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     
MANBA NM_005908.3 ?/. - c.1039G>A r.(?) p.(Gly347Arg)