Variant #0000000968 (NC_000019.10:g.11113505C>T, NC_000019.10(NM_000527.4):c.1359-30C>T (LDLR))

Individual ID 00000195
Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11113505C>T
Published as -
Reference Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar
DB-ID LDLR_000012
dbSNP ID rs1003723
Frequency 2/147
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
Date created 2020-11-29 10:20:30 +08:00 (CST)
Date last edited 2021-08-24 15:20:03 +08:00 (CST)
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 -/. 9i c.1359-30C>T - r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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