Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K|MAF: < 0.01 (G)
Location

Chromosome 12:101830666 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM060284

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

12:g.101830666T>G
ENST00000549940.5:c.10A>C
ENSP00000449150.1:p.Lys4Gln
ENST00000392919.4:c.10A>C
ENSP00000376651.4:p.Lys4Gln
ENST00000549165.1:c.10A>C
ENSP00000450413.1:p.Lys4Gln
ENST00000299314.11:c.10A>C
ENSP00000299314.7:p.Lys4Gln

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2508 sample genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays