Variant #0000000906 (NC_000007.14:g.94425847G>A, NM_000089.3:c.2933G>A (COL1A2))

Individual ID 00000183
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.94425847G>A
Published as -
Reference Nadiah Mohd Nawawi et al. (2018), ClinVar
DB-ID COL1A2_000003
dbSNP ID -
Frequency 2/5
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-24 11:59:11 +08:00 (CST)
Date last edited 2020-12-14 16:57:31 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
COL1A2 NM_000089.3 +/. 44 c.2933G>A - r.(?) p.(Arg978His) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000198 DNA SEQ COL1A2 4 Nuur Athirah Binti Mohd Daud