Variant #0000000962 (NC_000019.10:g.11107484G>A, LDLR(NM_000527.4):c.910G>A)

Individual ID 00000195
Chromosome 19
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11107484G>A
Published as -
Reference Alyaa Al-Khateeb et al. (2011), dbSNP, (OMIM 0008), ClinVar
DB-ID LDLR_000006 See all 3 reported entries
dbSNP ID rs121908030
Frequency 7/147
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 ./. 6 c.910G>A - r.(?) p.(Asp304Asn) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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