Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 7:143339290 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950271, CM076102

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 3 HGVS names - click the plus to show

7:g.143339290C>T
ENST00000343257.5:c.1439C>T
ENSP00000339867.2:p.Pro480Leu

About this variant

This variant overlaps 1 transcript, is associated with 3 phenotypes and is mentioned in 3 citations.

Variation displays