Most severe consequence
13
Splice region variant
Alleles
G/-|Ancestral: G|Highest population MAF: < 0.01
Location
Chromosome 7:500424 (forward strand)|View in location tab
Co-located variant
dbSNP rs769924702 (G/T)
Evidence status 
HGVS names
This variant has 4 HGVS names - Show
Original source
Data from NHLBI ESP version v.0.0.30. The goal of the NHLBI GO Exome Sequencing Project is to discover novel genes and mechanisms contributing to heart, lung and blood disorders by sequencing the protein coding regions of the human genome. (release 11/2014)|View in ESP
About this variant
This variant overlaps 5 transcripts.
