Variant ID: 3-197746153-ACGCTCAGAAGTAACCCACTGCAGCTAACTTGCAGACAGGACCAGAGAGCAGTTGCCGTG-A

NM_033029.3(LMLN):c.1262_1320del;(p.Thr421Metfs*2)

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: 1262_1333del
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.1264_1322del p.Leu422* frameshift_variant 12/16 -
ENST00000332636.5 c.1108_1166del p.Leu370* frameshift_variant 12/16 -
ENST00000420910.2 c.1375_1433del p.Leu459* frameshift_variant 13/17 -
ENST00000451139.2 n.1866_1924del - non_coding_transcript_exon_variant 12/16 -
ENST00000476356.1 n.466_524del - non_coding_transcript_exon_variant 5/5 -
ENST00000482695.1 c.1219_1277del p.Leu407* frameshift_variant 13/17 -
NM_001136049.2 c.1375_1433del p.Leu459* frameshift_variant 13/17 -
NM_033029.3 c.1264_1322del p.Leu422* frameshift_variant 12/16 -
NR_026786.2 n.1259_1317del - non_coding_transcript_exon_variant 13/17 -
NR_026787.2 n.1148_1206del - non_coding_transcript_exon_variant 12/16 -