View gene ACVRL1

General information
Gene symbol ACVRL1
Gene name activin A receptor type II-like 1
Chromosome 12
Chromosomal band q13.13
Imprinted Unknown
Genomic reference NG_009549.1
Transcript reference NM_000020.2
Associated with diseases telangiectasia, hemorrhagic, hereditary type 2
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 17
Unique public DNA variants reported 17
Individuals with public variants 17
Hidden variants 0
Date created May 03, 2013
Date last updated April 02, 2015
Version ACVRL1:150402

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 175
Entrez Gene 94
PubMed articles ACVRL1
OMIM - Gene 601284
OMIM - Diseases telangiectasia, hemorrhagic, hereditary type 2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002053 12 transcript variant 1 NM_000020.2 NP_000011.2 17