Variant #0000866905 (NC_000022.10:g.50946784G>A, NM_005138.2:c.*15256C>T (SCO2))

Chromosome 22
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.50946784G>A
DNA change (hg38) -
Published as NCAPH2(NM_001185011.1):c.18G>A (p.A6=)
ISCN -
DB-ID LMF2_000007
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 16:01:56 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCO2 NM_005138.2 -?/. - c.*15256C>T r.(=) p.(=)
LMF2 NM_033200.2 -?/. - c.-680C>T r.(?) p.(=)
NCAPH2 NM_152299.3 -?/. - c.18G>A r.(?) p.(Ala6=)


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