Variant ID: 19-11216014-G-GA

NM_000527.4(LDLR):c.432_433insA;(p.Val145Serfs*35)

This variant was identified in 3 publications




Publications:


Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
VV Miroshnikova, OV Romanova, ON Ivanova, MA Fedyakov, AA Panteleeva, YA Barbitoff, MV Muzalevskaya, SA Urazgildeeva, VS Gurevich, SP Urazov, SG Scherbak, AM Sarana, NA Semenova, IV Anisimova, DM Guseva, SN Pchelina, AS Glotov, EY Zakharova, OS Glotov
Publication Date: 2021-01

Variant appearance in text: N/A
PubMed Link: 33269076
Variant Present in the following documents:
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: LDLR: 432_433insA
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
Publication Date: 2012-10

Variant appearance in text: LDLR: 432_433insA
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.686_687insA p.Val230Serfs*35 frameshift_variant 4/18 -
ENST00000455727.2 c.314-2054_314-2053insA - intron_variant - 3/15
ENST00000535915.1 c.309_310insA p.Val104Serfs*35 frameshift_variant 3/17 -
ENST00000545707.1 c.314-1227_314-1226insA - intron_variant - 3/15
ENST00000557933.1 c.432_433insA p.Val145Serfs*35 frameshift_variant 4/18 -
ENST00000558013.1 c.432_433insA p.Val145Serfs*35 frameshift_variant 4/18 -
ENST00000558518.1 c.432_433insA p.Val145Serfs*35 frameshift_variant 4/18 -
ENST00000560467.1 c.32_33insA p.Val12Serfs*35 frameshift_variant 1/6 -
NM_000527.5 c.432_433insA p.Val145Serfs*35 frameshift_variant 4/18 -
NM_001195798.2 c.432_433insA p.Val145Serfs*35 frameshift_variant 4/18 -
NM_001195799.2 c.309_310insA p.Val104Serfs*35 frameshift_variant 3/17 -
NM_001195800.2 c.314-2054_314-2053insA - intron_variant - 3/15
NM_001195803.2 c.314-1227_314-1226insA - intron_variant - 3/15