Original source

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

Alleles
AA/GC
Location

Chromosome 3:37047639-37047640 (forward strand) | View in location tab

Co-located

with PhenCode MMR_c.1852_1853delAAinsGC (AA/GC), MMR_complex_17 (AA/PhenCode_variation), MMR_complex_18 (AA/PhenCode_variation), MMR_c.1852_1853delinsGC (AA/GC)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 22 HGVS names - click the plus to show

3:g.37047639_37047640delAAinsGC
ENST00000455445.6:c.1129_1130delAAinsGC
ENSP00000398272.2:p.Lys377Ala
ENST00000458205.6:c.1129_1130delAAinsGC
ENSP00000402667.2:p.Lys377Ala
ENST00000413740.1:c.291-2847_291-2846delAAinsGC
ENST00000435176.5:c.1558_1559delAAinsGC
ENSP00000402564.1:p.Lys520Ala
ENST00000536378.5:c.1129_1130delAAinsGC
ENSP00000444286.2:p.Lys377Ala
ENST00000231790.6:c.1852_1853delAAinsGC
ENSP00000231790.2:p.Lys618Ala
ENST00000616768.4:c.620_621delAAinsGC
ENSP00000480669.1:p.Lys208Ala
ENST00000456676.6:c.1827_1828delAAinsGC
ENSP00000416687.2:p.Lys610Ala
ENST00000539477.5:c.1129_1130delAAinsGC
ENSP00000443665.1:p.Lys377Ala
ENST00000450420.5:c.182-2847_182-2846delAAinsGC
LRG_216:g.59290_59291delAAinsGC
LRG_216t1:c.1852_1853delAAinsGC
LRG_216p1:p.Lys618Ala

About this variant

This variant overlaps 11 transcripts and is associated with 7 phenotypes.

Variant displays