Variant #0000866571 (NC_000020.10:g.61451332C>T, NM_001853.3:c.307C>T (COL9A3))

Chromosome 20
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.61451332C>T
DNA change (hg38) -
Published as COL9A3(NM_001853.4):c.307C>T (p.R103W, p.(Arg103Trp))
ISCN -
DB-ID COL9A3_000003 See all 4 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) 0.04792 View details
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 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL9A3 NM_001853.3 -/. - c.307C>T r.(?) p.(Arg103Trp)
TCFL5 NM_006602.2 -/. - c.*21995G>A r.(=) p.(=)


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