Variant ID: 3-197687112-C-CC

NM_033029.3(LMLN):c.20dup;(p.Lys8Glufs*64)

This variant was identified in 1 publication




Publications:


Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

American Journal Of Human Genetics
M Janosík, J Oliveriusová, B Janosíková, J Sokolová, E Kraus, JP Kraus, V Kozich
Publication Date: 2001-06

Variant appearance in text: Msp: 19_20insC
PubMed Link: 11359213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000330198.4 c.20dup p.Lys8Glufs*64 frameshift_variant 1/16 -
ENST00000419117.1 c.3+17dup - intron_variant - 1/5
ENST00000420910.2 c.20dup p.Lys8Glufs*64 frameshift_variant 1/17 -
ENST00000451139.2 n.25dup - non_coding_transcript_exon_variant 1/16 -
ENST00000482695.1 c.-16dup - 5_prime_UTR_variant 1/17 -
NM_001136049.2 c.20dup p.Lys8Glufs*64 frameshift_variant 1/17 -
NM_033029.3 c.20dup p.Lys8Glufs*64 frameshift_variant 1/16 -
NR_026786.2 n.25dup - non_coding_transcript_exon_variant 1/17 -
NR_026787.2 n.25dup - non_coding_transcript_exon_variant 1/16 -