Variant ID: 3-197726191-TCTGGCATTAATGGAGGACACTGGGTAAGACAGCTGTGACAAGAGGATATGAATTGCTTA-T

NM_033029.3(LMLN):c.1210_1232+36del

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: 1210_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.1211_1232+37del - splice_donor_variant,coding_sequence_variant,intron_variant 11/16 11/15
ENST00000332636.5 c.1055_1076+37del - splice_donor_variant,coding_sequence_variant,intron_variant 11/16 11/15
ENST00000420910.2 c.1211_1232+37del - splice_donor_variant,coding_sequence_variant,intron_variant 11/17 11/16
ENST00000451139.2 n.1702_1723+37del - splice_donor_variant,non_coding_transcript_exon_variant,intron_variant 10/16 10/15
ENST00000476356.1 n.413_434+37del - splice_donor_variant,non_coding_transcript_exon_variant,intron_variant 4/5 4/4
ENST00000480813.1 n.227_285del - non_coding_transcript_exon_variant 3/3 -
ENST00000482695.1 c.1055_1076+37del - splice_donor_variant,coding_sequence_variant,intron_variant 11/17 11/16
NM_001136049.2 c.1211_1232+37del - splice_donor_variant,coding_sequence_variant,intron_variant 11/17 11/16
NM_033029.3 c.1211_1232+37del - splice_donor_variant,coding_sequence_variant,intron_variant 11/16 11/15
NR_026786.2 n.1095_1116+37del - splice_donor_variant,non_coding_transcript_exon_variant,intron_variant 11/17 11/16
NR_026787.2 n.1095_1116+37del - splice_donor_variant,non_coding_transcript_exon_variant,intron_variant 11/16 11/15