Original source

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

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

Chromosome 4:1003102 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950685

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6453

HGVS names

This variant has 7 HGVS names - Hide

4:g.1003102T>C
ENST00000514224.1:c.1073T>C
ENSP00000425081.1:p.Leu358Pro
ENST00000514698.5:n.1576T>C
ENST00000247933.8:c.1469T>C
ENSP00000247933.4:p.Leu490Pro
ENST00000502829.1:n.271T>C

About this variant

This variant overlaps 11 transcripts and is associated with 4 phenotypes.

Variant displays