Variant #0000093541 (NC_000019.9:g.11200038_11218191del, LDLR(NM_000527.4):c.(?_-187)_(940+1_941-1)del)

Individual ID 00062532
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method ACGS
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.11200038_11218191del
DNA change (hg38) -
Published as c.-187-?_940+?del, FH Bologna-1
ISCN -
DB-ID LDLR_001274 See all 3 reported entries
Variant remarks predicted no protein; >25kb deletion of promotor & exons 1-6
Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference PubMed: Lelli 1991
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Sarah Leigh
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




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 +/+ _1_6i c.(?_-187)_(940+1_941-1)del r.(?) p.0? - Promoter - exon 6 - - - - 40-50% LDLR activity in Htz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000062521 DNA SEQ - - LDLR 1 Sarah Leigh