Variant ID: 1-25889641-AGC-TGA

NM_015627.2(LDLRAP1):c.613_615delinsTGA;(p.Ser205*)

This variant was identified in 1 publication




Publications:


Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Bmc Medical Genetics
FM Zakharova, D Damgaard, MY Mandelshtam, VI Golubkov, PH Nissen, GG Nilsen, A Stenderup, BM Lipovetsky, VO Konstantinov, AD Denisenko, VB Vasilyev, O Faergeman
Publication Date: 2005-02-08

Variant appearance in text: ARH: S205X
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374338.4 c.613_615delinsTGA p.Ser205* stop_gained,splice_region_variant 6/9 -
ENST00000484476.1 n.335_337delinsTGA - splice_region_variant,non_coding_transcript_exon_variant 1/4 -
ENST00000488127.1 n.1083_1085delinsTGA - splice_region_variant,non_coding_transcript_exon_variant 5/7 -
NM_015627.3 c.613_615delinsTGA p.Ser205* stop_gained,splice_region_variant 6/9 -