Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 19:46269324 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM071084

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 6 HGVS names - click the plus to show

19:g.46269324G>A
ENST00000559756.1:n.1180+102G>A
ENST00000560160.1:c.632C>T
ENST00000560168.1:c.*1081C>T
ENST00000317578.6:c.1655C>T
ENSP00000316842.4:p.Thr552Met

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays