Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 16:88809834 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM880009

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 13 HGVS names - click the plus to show

16:g.88809834A>G
ENST00000426324.5:c.401-128T>C
ENST00000563655.4:c.326T>C
ENSP00000456012.1:p.Met109Thr
ENST00000562464.1:n.417T>C
ENST00000567713.4:c.322-299T>C
ENST00000378364.6:c.407T>C
ENSP00000367615.3:p.Met136Thr
ENST00000567057.4:n.200-128T>C
ENST00000569616.1:c.472T>C
ENST00000568575.1:n.336T>C
ENST00000567391.4:c.*81T>C
ENST00000568319.4:c.*75-128T>C

About this variant

This variant overlaps 18 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variation displays