Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 14:28768479 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM100366 ; PhenCode RettBASE_FOXG1:c.1200C>G (C/G)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 28911

This variant has 5 HGVS names - click the plus to show

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays