Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 5:74718804 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS920760, CM952224

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 11 HGVS names - click the plus to show

5:g.74718804C>T
ENST00000511181.5:c.575C>T
ENSP00000426285.1:p.Pro192Leu
ENST00000503312.5:c.126C>T
ENSP00000426384.1:p.Pro43Leu
ENST00000504459.5:n.447C>T
ENST00000513336.5:c.186C>T
ENSP00000423713.1:p.Pro63Leu
ENST00000261416.11:c.1250C>T
ENSP00000261416.7:p.Pro417Leu
ENST00000513539.1:n.74-105C>T

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes and is associated with 6 phenotypes.

Variant displays