Variant ID: 19-11213413-G-C

NM_000527.4(LDLR):c.264G>C;(p.Arg88Ser)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: R88S
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.519G>C p.Arg173Ser missense_variant 3/18 -
ENST00000455727.2 c.264G>C p.Arg88Ser missense_variant 3/16 -
ENST00000535915.1 c.190+2392G>C - intron_variant - 2/16
ENST00000545707.1 c.264G>C p.Arg88Ser missense_variant 3/16 -
ENST00000557933.1 c.264G>C p.Arg88Ser missense_variant 3/18 -
ENST00000557958.1 n.350G>C - non_coding_transcript_exon_variant 3/3 -
ENST00000558013.1 c.264G>C p.Arg88Ser missense_variant 3/18 -
ENST00000558518.1 c.264G>C p.Arg88Ser missense_variant 3/18 -
NM_000527.5 c.264G>C p.Arg88Ser missense_variant 3/18 -
NM_001195798.2 c.264G>C p.Arg88Ser missense_variant 3/18 -
NM_001195799.2 c.190+2392G>C - intron_variant - 2/16
NM_001195800.2 c.264G>C p.Arg88Ser missense_variant 3/16 -
NM_001195803.2 c.264G>C p.Arg88Ser missense_variant 3/16 -