Most severe consequence
 
Missense variant
Alleles
G/A/C|Ancestral: G|Highest population MAF: < 0.01
Location

Chromosome 11:2160956 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM082897 ; COSMIC COSM3931294, COSM3931293

Evidence status

Clinical significance

HGVS names

This variant has 50 HGVS names - Show

Synonyms

This variant has 2 synonyms - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 1 citation.

Description from SNPedia

[PMID:18162506] Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

Variant displays