Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 2:219418599 (forward strand) | View in location tab


with HGMD-PUBLIC CM044225, CM044224 ; PhenCode HIFD_DES:c.137C>T (C/T), HIFD_DES:c.137C>A (C/A)

Most severe consequence
Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

About this variant

This variant overlaps 9 transcripts and is associated with 3 phenotypes.

Variation displays