Variant ID: 19-11240215-G-GG

NM_000527.4(LDLR):c.2416dup;(p.Val806Glyfs*11)

This variant was identified in 3 publications




Publications:


Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease
AE Semenova, IV Sergienko, D GarcĂ­a-Giustiniani, L Monserrat, AB Popova, DN Nozadze, MV Ezhov
Publication Date: 2020-05-14

Variant appearance in text: LDLR: 2416_2417insG; Val806Glyfs*11
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Scientific Reports
RH Fairoozy, M Futema, R Vakili, MR Abbaszadegan, S Hosseini, M Aminzadeh, H Zaeri, M Mobini, SE Humphries, A Sahebkar
Publication Date: 2017-12-06

Variant appearance in text: LDLR: 2416_2417insG; Val806Glyfs*11
PubMed Link: 29213121
Variant Present in the following documents:
  • 41598_2017_17181_MOESM1_ESM.pdf
  • aaaaaMain text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: LDLR: Val806GlyfsX11
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2670dup p.Val891Glyfs*11 frameshift_variant 17/18 -
ENST00000455727.2 c.1912dup p.Val638Glyfs*11 frameshift_variant 15/16 -
ENST00000535915.1 c.2293dup p.Val765Glyfs*11 frameshift_variant 16/17 -
ENST00000545707.1 c.1882dup p.Val628Glyfs*11 frameshift_variant 15/16 -
ENST00000557933.1 c.2478dup p.Ser827Valfs*56 frameshift_variant 17/18 -
ENST00000558013.1 c.2416dup p.Val806Glyfs*11 frameshift_variant 17/18 -
ENST00000558518.1 c.2416dup p.Val806Glyfs*11 frameshift_variant 17/18 -
ENST00000560628.1 n.108+1885dup - intron_variant,non_coding_transcript_variant - 1/1
NM_000527.5 c.2416dup p.Val806Glyfs*11 frameshift_variant 17/18 -
NM_001195798.2 c.2416dup p.Val806Glyfs*11 frameshift_variant 17/18 -
NM_001195799.2 c.2293dup p.Val765Glyfs*11 frameshift_variant 16/17 -
NM_001195800.2 c.1912dup p.Val638Glyfs*11 frameshift_variant 15/16 -
NM_001195803.2 c.1882dup p.Val628Glyfs*11 frameshift_variant 15/16 -