Variant #0000002729 (NC_000019.10:g.11107484G>A, LDLR(NM_000527.4):c.910G>A)

Individual ID 00000620
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11107484G>A
Published as -
Reference {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}
DB-ID LDLR_000006 See all 3 reported entries
dbSNP ID rs121908030
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
LDLR NM_000527.4 +/. 6 c.910G>A - r.(?) p.(Asp304Asn) - Pathogenic/Likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000687 DNA DHPLC;PCR;SEQ LDLR 16 Nur Aisyah Athirah