Original source

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

Alleles
T/C/G|Ancestral: T|Ambiguity code: B
Location

Chromosome 4:186196007 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041497

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_207352.3:c.332T>C, 15843

HGVS names

This variant has 6 HGVS names - Hide

Variant allele C
4:g.186196007T>C
ENST00000378802.4:c.332T>C
ENSP00000368079.4:p.Ile111Thr

Variant allele G
4:g.186196007T>G
ENST00000378802.4:c.332T>G
ENSP00000368079.4:p.Ile111Ser

About this variant

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

Variant displays