Original source

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

Alleles
TT/CC
Location

Chromosome 17:39723966-39723967 (forward strand) | View in location tab

Co-located

with COSMIC COSM683 (TT/CC)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB Cosmic:683, 4437

This variant has 25 HGVS names - click the plus to show

17:g.39723966_39723967delTTinsCC
ENST00000583038.5:n.3397_3398delTTinsCC
ENST00000580074.1:c.369_370delTTinsCC
ENSP00000463002.1:p.Leu124Pro
ENST00000584450.5:c.2263_2264delTTinsCC
ENSP00000463714.1:p.Leu755Pro
ENST00000578630.1:n.872_873delTTinsCC
ENST00000541774.5:c.2218_2219delTTinsCC
ENSP00000446466.1:p.Leu740Pro
ENST00000445658.6:c.1435_1436delTTinsCC
ENSP00000404047.2:p.Leu479Pro
ENST00000269571.9:c.2263_2264delTTinsCC
ENSP00000269571.4:p.Leu755Pro
ENST00000406381.6:c.2173_2174delTTinsCC
ENSP00000385185.2:p.Leu725Pro
ENST00000578373.5:c.*2053_*2054delTTinsCC
ENST00000584601.5:c.2173_2174delTTinsCC
ENSP00000462438.1:p.Leu725Pro
LRG_724:g.40827_40828delTTinsCC
LRG_724t4:c.2218_2219delTTinsCC
LRG_724p4:p.Leu740Pro
LRG_724t1:c.2173_2174delTTinsCC
LRG_724p1:p.Leu725Pro
LRG_724t2:c.2263_2264delTTinsCC
LRG_724p2:p.Leu755Pro

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays