Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 16:23623003 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM070236 ; PhenCode PALB2:c.2962C>T (G/A)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 16733, NM_024675.3:c.2962C>T

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

16:g.23623003G>A
ENST00000568219.3:c.*2837C>T
ENST00000561764.1:n.420-897G>A
ENST00000261584.6:c.2962C>T
ENSP00000261584.4:p.Gln988Ter
LRG_308:g.23355C>T
LRG_308t1:c.2962C>T
LRG_308p1:p.Gln988Ter

Variation displays