Most severe consequence
13
Splice region variant
Alleles
HGMD_MUTATION|Ancestral: A
Location
Chromosome 3:165060026 (forward strand)|View in location tab
Co-located variant
dbSNP rs267607049 (A/G)
Evidence status 
Original source
Variants from HGMD-PUBLIC dataset December 2016. Projected to GRCh38 (release 2016.4)|View in HGMD-PUBLIC
About this variant
This variant overlaps 1 transcript and is associated with 1 phenotype.
