Variant #0000000898 (NC_000017.11:g.50191979C>T, COL1A1(NM_000088.3):c.2028+1G>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.50191979C>T
Published as -
Reference Nadiah Mohd Nawawi et al. (2018)
DB-ID COL1A1_000007
dbSNP ID -
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
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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 +/. 31 c.2028+1G>A - r.spl? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000197 DNA SEQ COL1A1 12 Nuur Athirah Binti Mohd Daud