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

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) Variant not found in online data sets
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
Options




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