Variant #0000001037 (NC_000019.10:g.11100232_11100233del, LDLR(NM_000527.4):c.77_78del)

Individual ID 00000203
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11100232_11100233del
Published as GA deleted at 77
Reference K L Khoo et al. (2000), dbSNP, ClinVar
DB-ID LDLR_000038
dbSNP ID rs879254400
Frequency 1/9
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 +/. 2 c.77_78del - r.(?) p.(Arg26Metfs*25) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000218 DNA DGGE;PCR LDLR 8 Nuur Athirah Binti Mohd Daud