Variant ID: 19-11223981-A-C

NM_000527.4(LDLR):c.1214A>C;(p.Asn405Thr)

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: N405T
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.1469A>C p.Asn490Thr missense_variant 9/18 -
ENST00000455727.2 c.710A>C p.Asn237Thr missense_variant 7/16 -
ENST00000535915.1 c.1091A>C p.Asn364Thr missense_variant 8/17 -
ENST00000545707.1 c.833A>C p.Asn278Thr missense_variant 8/16 -
ENST00000557933.1 c.1214A>C p.Asn405Thr missense_variant 9/18 -
ENST00000558013.1 c.1214A>C p.Asn405Thr missense_variant 9/18 -
ENST00000558518.1 c.1214A>C p.Asn405Thr missense_variant 9/18 -
ENST00000560173.1 n.213A>C - non_coding_transcript_exon_variant 3/3 -
ENST00000560467.1 c.695A>C p.Asn232Thr missense_variant 5/6 -
NM_000527.5 c.1214A>C p.Asn405Thr missense_variant 9/18 -
NM_001195798.2 c.1214A>C p.Asn405Thr missense_variant 9/18 -
NM_001195799.2 c.1091A>C p.Asn364Thr missense_variant 8/17 -
NM_001195800.2 c.710A>C p.Asn237Thr missense_variant 7/16 -
NM_001195803.2 c.833A>C p.Asn278Thr missense_variant 8/16 -