Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 1:235766204 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM021560 ; PhenCode LYSTbase_D0020:g.101722T>A (A/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 5 HGVS names - click the plus to show

1:g.235766204A>T
ENST00000489585.2:n.6512+35T>A
ENST00000389794.4:c.*1420T>A
ENST00000389793.3:c.5996T>A
ENSP00000374443.2:p.Val1999Asp

Variation displays