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

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
Date created 2020-11-24 11:25:06 +08:00 (CST)
Date last edited 2021-08-23 14:56:07 +08:00 (CST)
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