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 16:23603471 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM070239, CM070240 ; PhenCode PALB2:c.3549C>A (G/T), PALB2:c.3549C>G (G/C)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_024675.3:c.3549C>G, 16732

This variation has 8 HGVS names - click the plus to show

16:g.23603471G>C
ENST00000568219.4:c.*3424C>G
ENST00000566069.4:c.*184C>G
ENST00000261584.7:c.3549C>G
ENSP00000261584.4:p.Tyr1183Ter
LRG_308:g.42887C>G
LRG_308t1:c.3549C>G
LRG_308p1:p.Tyr1183Ter

About this variant

This variant overlaps 5 transcripts, is associated with 6 phenotypes and is mentioned in 2 citations.

Variation displays