Variant #0000062494 (NC_000012.11:g.48398080T>A, COL2A1(NM_001844.4):c.25A>T)

Individual ID 00035305
Chromosome 12
Allele Parent #1
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.48398080T>A
DNA change (hg38) g.48004297T>A
Published as -
ISCN -
DB-ID COL2A1_000401 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs3803183
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.74115 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL2A1 NM_001844.4 -/. 1 c.25A>T r.(?) p.(Thr9Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035375 DNA SEQ - - COL2A1 1 Andreas Laner