Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variants

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

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 18 HGVS names - Hide

Variant allele T
16:g.23603471G>T
ENST00000568219.5:c.2664C>A
ENSP00000454703.2:p.Tyr888Ter
ENST00000261584.8:c.3549C>A
ENSP00000261584.4:p.Tyr1183Ter
ENST00000566069.5:c.*184C>A
LRG_308:g.42887C>A
LRG_308t1:c.3549C>A
LRG_308p1:p.Tyr1183Ter

Variant allele C
16:g.23603471G>C
ENST00000568219.5:c.2664C>G
ENSP00000454703.2:p.Tyr888Ter
ENST00000261584.8:c.3549C>G
ENSP00000261584.4:p.Tyr1183Ter
ENST00000566069.5:c.*184C>G
LRG_308:g.42887C>G
LRG_308t1:c.3549C>G
LRG_308p1:p.Tyr1183Ter

About this variant

This variant overlaps 10 transcripts, is associated with 8 phenotypes and is mentioned in 3 citations.

Variant displays