Variant #0000000986 (NC_000019.10:g.11120378_11120394del, LDLR(NM_000527.4):c.1996_2012del)

Individual ID 00000195
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11120378_11120394del
Published as c.1996_2012del17
Reference Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar
DB-ID LDLR_000030
dbSNP ID rs879255104
Frequency 4/147
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     
LDLR NM_000527.4 +/. 14 c.1996_2012del - r.(?) p.(Trp666Profs*45) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000210 DNA DHPLC;MLPA;PCR LDLR 29 Nuur Athirah Binti Mohd Daud