Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S | MAF: 0.01 (C)
Location

Chromosome 4:1002767 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930428

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

4:g.1002767G>C
ENST00000514224.1:c.829G>C
ENSP00000425081.1:p.Gly277Arg
ENST00000514698.5:n.1332G>C
ENST00000247933.8:c.1225G>C
ENSP00000247933.4:p.Gly409Arg
ENST00000502829.1:n.27G>C

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 11 transcripts, has 2505 sample genotypes and is associated with 3 phenotypes.

Variant displays