All variants in the LDLR gene

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/MutationTaster     

P-domain     

Predict/PolyPhen     

Predict/SIFT     

Conservation     

Predict/Splice     

Enzyme activity     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/-? _1 c.-268G>T r.(=) p.? - FP2 cis acting regulatory element - - 7/8 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - Transient transfection in HepG2 cells demonstrated ACGS likely benign g.11199957G>T g.11089281G>T - - LDLR_000374 Hobb's numbering -175. Probably rare African non-disease causing variant. Found in FH and normal, may contribute to FH when present with other FH alleles (c.1222G>A, p.E408K) PubMed: Scholtz 1999 - - Germline - - - 0 - Sarah Leigh
-?/-? _1 c.-268G>T r.(=) p.? - FP2 cis acting regulatory element - - 7/8 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - limited effect on LDLR activity ACGS likely benign g.11199957G>T g.11089281G>T - - LDLR_000374 - PubMed: Whittall 2002 - - Germline - - - 0 - Sarah Leigh
-?/. - c.-268G>T r.(?) p.(=) - - - - - - - - likely benign g.11199957G>T g.11089281G>T LDLR(NM_000527.4):c.-268G>T - LDLR_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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