Variant ID: 3-197710904-G-T

NM_033029.3(LMLN):c.819G>T;(p.Glu273Asp)

This variant was identified in 1 publication




Publications:


Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

American Journal Of Human Genetics
S Ferdinandusse, MS Ylianttila, J Gloerich, MK Koski, W Oostheim, HR Waterham, JK Hiltunen, RJ Wanders, T Glumoff
Publication Date: 2006-01

Variant appearance in text: Msp: 819G>T
PubMed Link: 16385454
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000330198.4 c.819G>T p.Glu273Asp missense_variant 7/16 -
ENST00000332636.5 c.663G>T p.Glu221Asp missense_variant 7/16 -
ENST00000420910.2 c.819G>T p.Glu273Asp missense_variant 7/17 -
ENST00000451139.2 n.1310G>T - non_coding_transcript_exon_variant 6/16 -
ENST00000473676.1 n.277G>T - non_coding_transcript_exon_variant 2/6 -
ENST00000482695.1 c.663G>T p.Glu221Asp missense_variant 7/17 -
NM_001136049.2 c.819G>T p.Glu273Asp missense_variant 7/17 -
NM_033029.3 c.819G>T p.Glu273Asp missense_variant 7/16 -
NR_026786.2 n.703G>T - non_coding_transcript_exon_variant 7/17 -
NR_026787.2 n.703G>T - non_coding_transcript_exon_variant 7/16 -