Variant ID: 3-197717485-G-A

NM_033029.3(LMLN):c.985G>A;(p.Asp329Asn)

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: Msp: 985G>A
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000330198.4 c.985G>A p.Asp329Asn missense_variant 9/16 -
ENST00000332636.5 c.829G>A p.Asp277Asn missense_variant 9/16 -
ENST00000420910.2 c.985G>A p.Asp329Asn missense_variant 9/17 -
ENST00000451139.2 n.1476G>A - non_coding_transcript_exon_variant 8/16 -
ENST00000472063.1 n.296G>A - non_coding_transcript_exon_variant 2/3 -
ENST00000473676.1 n.443G>A - non_coding_transcript_exon_variant 4/6 -
ENST00000476356.1 n.187G>A - non_coding_transcript_exon_variant 2/5 -
ENST00000480813.1 n.1G>A - non_coding_transcript_exon_variant 1/3 -
ENST00000482695.1 c.829G>A p.Asp277Asn missense_variant 9/17 -
NM_001136049.2 c.985G>A p.Asp329Asn missense_variant 9/17 -
NM_033029.3 c.985G>A p.Asp329Asn missense_variant 9/16 -
NR_026786.2 n.869G>A - non_coding_transcript_exon_variant 9/17 -
NR_026787.2 n.869G>A - non_coding_transcript_exon_variant 9/16 -