Original source

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

Alleles
C/G/T | Ancestral: C | Ambiguity code: B
Location

Chromosome 4:998080 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM940974

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6451

This variation has 16 HGVS names - click the plus to show

Variant allele T
4:g.998080C>T
ENST00000514224.1:c.1465C>T
ENSP00000425081.1:p.Arg489Ter
ENST00000514698.1:n.1972C>T
ENST00000453894.1:c.1927C>T
ENSP00000396458.1:p.Arg643Ter
ENST00000247933.4:c.1861C>T
ENSP00000247933.4:p.Arg621Ter

Variant allele G
4:g.998080C>G
ENST00000514224.1:c.1465C>G
ENSP00000425081.1:p.Arg489Gly
ENST00000514698.1:n.1972C>G
ENST00000453894.1:c.1927C>G
ENSP00000396458.1:p.Arg643Gly
ENST00000247933.4:c.1861C>G
ENSP00000247933.4:p.Arg621Gly

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays