Original source

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

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

Chromosome 17:42210189 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032382 ; PhenCode STAT5Bbase_D0082:g.67275G>C (C/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12522

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

17:g.42210189C>G
ENST00000468496.5:n.732G>C
ENST00000481253.2:n.303G>C
ENST00000293328.7:c.1888G>C
ENSP00000293328.3:p.Ala630Pro
LRG_192:g.71218G>C
LRG_192t1:c.1888G>C
LRG_192p1:p.Ala630Pro

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays