Variant #0000328575 (NC_000020.10:g.61444660_61444719del, NM_001853.3:c.-3757_-3698del (COL9A3))

Chromosome 20
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.61444660_61444719del
DNA change (hg38) g.62813308_62813367del
Published as OGFR(NM_007346.2):c.1693_1752del (p.(Arg565_Pro584del))
ISCN -
DB-ID OGFR_000008
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 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-04-16 21:50:28 +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.-3757_-3698del r.(?) p.(=)
TCFL5 NM_006602.2 -?/. - c.*28662_*28721del r.(=) p.(=)
OGFR NM_007346.2 -?/. - c.1693_1752del r.(?) p.(Arg565_Pro584del)


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