Original source

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

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

Chromosome 4:981646 (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.981646C>T
ENST00000514698.1:n.199+616C>T
ENST00000508168.1:n.177+616C>T
ENST00000504568.1:c.206C>T
ENST00000398520.2:c.576+3270G>A
ENST00000506561.1:n.217C>T
ENST00000361661.2:c.*975G>A
ENST00000453894.1:c.158+616C>T
ENST00000247933.4:c.208C>T
ENSP00000247933.4:p.Gln70Ter
ENST00000502910.1:c.158+616C>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays