Variant #0000915567 (NC_000022.10:g.50964995dup, NC_000022.10(NM_001257988.1):c.928+10dup (TYMP))

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.50964995dup
DNA change (hg38) -
Published as TYMP(NM_001113755.2):c.928+10dup (p.(=))
ISCN -
DB-ID NCAPH2_000045
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2023-01-11 15:44:22 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ODF3B NM_001014440.3 -?/. - c.*3914dup r.(?) p.(=)
TYMP NM_001257988.1 -?/. - c.928+10dup r.(=) p.(=)
SCO2 NM_005138.2 -?/. - c.-1108dup r.(?) p.(=)
NCAPH2 NM_152299.3 -?/. - c.*3191dup r.(?) p.(=)


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