Most severe consequence
3
Splice donor variant
Alleles
C/T|Ancestral: C
Location
Chromosome 12:49039221 (forward strand)|View in location tab
Co-located variants
COSMIC COSM221113, COSM221112
Evidence status 
Clinical significance
HGVS names
This variant has 3 HGVS names - Show
Synonyms
ClinVar RCV000414121
Original source
Variants of clinical significance imported from ClinVar (release 04/2017)|About ClinVar
About this variant
This variant overlaps 4 transcripts and is associated with 1 phenotype.
