Variant #0000001056 (NC_000019.10:g.11106633T>A, LDLR(NM_000527.4):c.763T>A)

Individual ID 00000208
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11106633T>A
Published as Cys255Ser in exon 5
Reference Kah Lin Khoo et al. (2016), dbSNP, ClinVar
DB-ID LDLR_000027 See all 6 reported entries
dbSNP ID rs879254668
Frequency 1/10
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     
LDLR NM_000527.4 +?/. 5 c.763T>A - r.(?) p.(Cys255Ser) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000223 DNA MLPA;SEQ LDLR 6 Nuur Athirah Binti Mohd Daud