Variant #0000548227 (NC_000012.11:g.48391657T>A, COL2A1(NM_001844.4):c.426A>T)

Chromosome 12
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.48391657T>A
DNA change (hg38) g.47997874T>A
Published as COL2A1(NM_001844.4):c.426A>T (p.(Glu142Asp), p.E142D)
ISCN -
DB-ID COL2A1_000600 See all 2 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) 0.03763 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL2A1 NM_001844.4 -/. - c.426A>T r.(?) p.(Glu142Asp)