Variant #0000000894 (NC_000017.11:g.50188131C>T, NM_000088.3:c.3226G>A (COL1A1))

Individual ID 00000182
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.50188131C>T
Published as -
Reference Nadiah Mohd Nawawi et al. (2018), dbSNP, ClinVar
DB-ID COL1A1_000003
dbSNP ID rs67394386
Frequency 2/14
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 11:08:24 +08:00 (CST)
Date last edited 2021-08-23 14:49:41 +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     
COL1A1 NM_000088.3 ./. 44 c.3226G>A - r.(?) p.(Gly1076Ser) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000197 DNA SEQ COL1A1 12 Nuur Athirah Binti Mohd Daud