Variant #0000163912 (NC_000019.9:g.11200090C>A, LDLR(NM_000527.4):c.-135C>A)

Individual ID 00100948
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.11200090C>A
DNA change (hg38) g.11089414C>A
Published as g.5034C>A
ISCN -
DB-ID LDLR_001906
Variant remarks -
Reference Journal: Banares 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/33 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Virginia Bañares
Database submission license No license selected
Created by Virginia Bañares
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 c.-135C>A r.(=) p.(?) Disease causing - - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101371 DNA SEQ - - APOB, LDLR 1 Virginia Bañares