Variant #0000292997 (NC_000022.10:g.50962259G>A, NM_001257988.1:c.*1940C>T (TYMP))

Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.50962259G>A
DNA change (hg38) g.50523830G>A
Published as NCAPH2(NM_001185011.2):c.*455G>A, SCO2(NM_001169109.2):c.582C>T (p.S194=)
ISCN -
DB-ID NCAPH2_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) 0.05107 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TYMP NM_001257988.1 -/. - c.*1940C>T r.(=) p.(=)
SCO2 NM_005138.2 -/. - c.582C>T r.(?) p.(Ser194=)
NCAPH2 NM_152299.3 -/. - c.*455G>A r.(=) p.(=)


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