Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 7:107919098 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930190

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6380

HGVS names

This variant has 10 HGVS names - Hide

7:g.107919098C>T
ENST00000205402.9:c.1463C>T
ENSP00000205402.3:p.Pro488Leu
ENST00000417551.5:c.1463C>T
ENSP00000390667.1:p.Pro488Leu
ENST00000437604.6:c.1319C>T
ENSP00000387542.2:p.Pro440Leu
ENST00000415325.5:c.*1137C>T
ENST00000440410.5:c.1394C>T
ENSP00000417016.1:p.Pro465Leu

About this variant

This variant overlaps 9 transcripts and is associated with 2 phenotypes.

Variant displays