Variant #0000000899 (NC_000017.11:g.50196163C>T, COL1A1(NM_000088.3):c.994G>A)

Individual ID 00000182
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.50196163C>T
Published as -
Reference Nadiah Mohd Nawawi et al. (2018), dbSNP, (OMIM 0030) ClinVar
DB-ID COL1A1_000008
dbSNP ID rs72645357
Frequency 1/14
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
COL1A1 NM_000088.3 +/. 15 c.994G>A - r.(?) p.(Gly332Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000197 DNA SEQ COL1A1 12 Nuur Athirah Binti Mohd Daud