Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: < 0.01 (T)
Location

Chromosome 10:123040605 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM052824

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 24241

HGVS names

This variant has 9 HGVS names - Hide

10:g.123040605C>T
ENST00000411816.2:n.460C>T
ENST00000358776.6:c.443C>T
ENSP00000357873.3:p.Thr148Ile
ENST00000368869.8:c.137C>T
ENSP00000357862.4:p.Thr46Ile
LRG_451:g.36693C>T
LRG_451t1:c.443C>T
LRG_451p1:p.Thr148Ile

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays