Original source

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

Alleles
T/A/C|Ancestral: T|Ambiguity code: H
Location

Chromosome 4:186191953 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041494

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_207352.3:c.130T>A, 15842

HGVS names

This variant has 6 HGVS names - Hide

Variant allele A
4:g.186191953T>A
ENST00000378802.4:c.130T>A
ENSP00000368079.4:p.Trp44Arg

Variant allele C
4:g.186191953T>C
ENST00000378802.4:c.130T>C
ENSP00000368079.4:p.Trp44Arg

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays