Original source

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

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

Chromosome 7:107917404 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM034650

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6385

HGVS names

This variant has 10 HGVS names - Hide

7:g.107917404T>C
ENST00000417551.5:c.1178T>C
ENSP00000390667.1:p.Ile393Thr
ENST00000205402.9:c.1178T>C
ENSP00000205402.3:p.Ile393Thr
ENST00000440410.5:c.1109T>C
ENSP00000417016.1:p.Ile370Thr
ENST00000437604.6:c.1034T>C
ENSP00000387542.2:p.Ile345Thr
ENST00000415325.5:c.*852T>C

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays