Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 16:3247166 (forward strand) | View in location tab

Co-located

with COSMIC COSM282758 (G/T) ; HGMD-PUBLIC CM981243

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 27 HGVS names - click the plus to show

16:g.3247166G>C
ENST00000621655.1:c.804C>G
ENSP00000481436.1:p.Phe268Leu
ENST00000538326.5:c.*62C>G
ENST00000219596.5:c.1437C>G
ENSP00000219596.1:p.Phe479Leu
ENST00000576315.5:c.*70C>G
ENST00000536980.5:c.804C>G
ENSP00000444178.1:p.Phe268Leu
ENST00000339854.8:c.897C>G
ENSP00000339639.4:p.Phe299Leu
ENST00000536379.5:c.804C>G
ENSP00000445079.1:p.Phe268Leu
ENST00000570511.5:c.*70C>G
ENST00000541159.5:c.804C>G
ENSP00000438711.1:p.Phe268Leu
ENST00000574583.5:c.*70C>G
ENST00000539154.1:n.802C>G
ENST00000542898.5:c.1530C>G
ENSP00000444615.1:p.Phe510Leu
ENST00000572244.5:c.278-619C>G
ENST00000537682.5:c.1437C>G
ENSP00000438611.1:p.Phe479Leu
ENST00000539145.5:c.*70C>G
LRG_190:g.14462C>G
LRG_190t1:c.1437C>G
LRG_190p1:p.Phe479Leu

About this variant

This variant overlaps 16 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays