Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome X:153993747 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM023365 ; PhenCode DKC1base_D0028:g.3715T>C (T/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

X:g.153993747T>C
ENST00000437719.1:c.69T>C
ENSP00000395693.1:p.Ile24Thr
ENST00000473552.1:n.166T>C
ENST00000369550.5:c.113T>C
ENSP00000358563.5:p.Ile38Thr
ENST00000452771.1:c.71T>C
ENSP00000407325.1:p.Ile24Thr
ENST00000413910.1:c.113T>C
ENSP00000400542.1:p.Ile38Thr
LRG_55:g.7717T>C
LRG_55t1.1:c.113T>C
LRG_55p1.1:p.Ile38Thr

Genotyping chips

This variation has assays on: Illumina_1M-duo, Illumina_HumanOmni5

Variation displays