Original source

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

Alleles
C/T|Ambiguity code: Y
Location

Chromosome X:71127367 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1319413, COSM1319414 ; HGMD-PUBLIC CM071860

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6887, NM_005120.2:c.2881C>T

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 7 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays