Variant #0000279003 (NC_000019.9:g.11200266G>T, LDLR(NM_000527.4):c.42G>T)

Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.11200266G>T
DNA change (hg38) g.11089590G>T
Published as LDLR(NM_000527.4):c.42G>T (p.L14F)
ISCN -
DB-ID LDLR_001929
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/MutationTaster     

P-domain     

Predict/PolyPhen     

Predict/SIFT     

Conservation     

Predict/Splice     

Enzyme activity     
LDLR NM_000527.4 -?/. - c.42G>T r.(?) p.(Leu14Phe) - - - - - - -