This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
G/A/C/T|Ancestral: G|Ambiguity code: N
Location

Chromosome 4:154585712 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930251

Most severe consequence
 
Splice acceptor variant
Evidence status

Clinical significance

Synonyms

LSDB 1936

HGVS names

This variant has 33 HGVS names - Hide

Variant allele A
4:g.154585712G>A
ENST00000302053.7:c.1717C>T
ENSP00000306361.3:p.Arg573Cys
ENST00000403106.7:c.1717C>T
ENSP00000385981.3:p.Arg573Cys
ENST00000622532.1:c.644-2C>T
LRG_557:g.10034C>T
LRG_557t2:c.1717C>T
LRG_557p2:p.Arg573Cys
LRG_557t1:c.1717C>T
LRG_557p1:p.Arg573Cys

Variant allele T
4:g.154585712G>T
ENST00000302053.7:c.1717C>A
ENSP00000306361.3:p.Arg573Ser
ENST00000403106.7:c.1717C>A
ENSP00000385981.3:p.Arg573Ser
ENST00000622532.1:c.644-2C>A
LRG_557:g.10034C>A
LRG_557t2:c.1717C>A
LRG_557p2:p.Arg573Ser
LRG_557t1:c.1717C>A
LRG_557p1:p.Arg573Ser

Variant allele C
4:g.154585712G>C
ENST00000302053.7:c.1717C>G
ENSP00000306361.3:p.Arg573Gly
ENST00000403106.7:c.1717C>G
ENSP00000385981.3:p.Arg573Gly
ENST00000622532.1:c.644-2C>G
LRG_557:g.10034C>G
LRG_557t2:c.1717C>G
LRG_557p2:p.Arg573Gly
LRG_557t1:c.1717C>G
LRG_557p1:p.Arg573Gly

About this variant

This variant overlaps 15 transcripts and is associated with 2 phenotypes.

Variant displays