Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 4:987858 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930424

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6443

This variation has 11 HGVS names - click the plus to show

4:g.987858C>T
ENST00000514698.2:n.199+616C>T
ENST00000508168.2:n.177+616C>T
ENST00000504568.2:c.206C>T
ENST00000398520.3:c.576+3270G>A
ENST00000622731.1:c.576+3270G>A
ENST00000506561.2:n.217C>T
ENST00000361661.3:c.*975G>A
ENST00000247933.5:c.208C>T
ENSP00000247933.4:p.Gln70Ter
ENST00000502910.2:c.158+616C>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays