Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 16:11553546 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM051552 ; PhenCode IPNMDB_704 (G/C)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12172, 2010_April_001_061_LITAF_603795_0004

This variation has 35 HGVS names - click the plus to show

16:g.11553546G>C
ENST00000339430.8:c.364C>G
ENSP00000340118.5:p.Leu122Val
ENST00000571459.4:c.220+2965C>G
ENST00000620789.3:c.364C>G
ENSP00000481589.1:p.Leu122Val
ENST00000570798.4:c.364C>G
ENSP00000458871.1:p.Leu122Val
ENST00000381810.6:c.364C>G
ENSP00000371231.3:p.Leu122Val
ENST00000573332.4:c.*177C>G
ENST00000570904.4:c.364C>G
ENSP00000459138.1:p.Leu122Val
ENST00000574701.4:c.364C>G
ENSP00000458981.1:p.Leu122Val
ENST00000576036.4:c.364C>G
ENSP00000461667.1:p.Leu122Val
ENST00000413364.5:c.364C>G
ENSP00000397958.2:p.Leu122Val
ENST00000622633.3:c.364C>G
ENSP00000483114.1:p.Leu122Val
ENST00000574763.4:c.364C>G
ENSP00000461813.1:p.Leu122Val
ENST00000571688.4:c.364C>G
ENSP00000459533.1:p.Leu122Val
ENST00000575426.1:c.*151C>G
ENST00000571976.1:c.364C>G
ENSP00000460133.1:p.Leu122Val
ENST00000571627.4:c.364C>G
ENSP00000460743.1:p.Leu122Val
ENST00000572255.4:c.85C>G
ENSP00000458836.1:p.Leu29Val
LRG_253:g.38405C>G
LRG_253t1:c.364C>G
LRG_253p1:p.Leu122Val

About this variant

This variant overlaps 22 transcripts and is associated with 2 phenotypes.

Variation displays