Unique variants in the GLA gene

Information The variants shown are described using the NM_000169.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 1 - c.610T>C - r.(?) p.(Trp204Arg) Likely pathogenic​ g.101400695A>G - https://www.researchsquare.com/article/rs-230368/v1 GLA_000001 rs869312148 - - Nur Aisyah Athirah
+/. 1 - c.640-801G>A IVS4+919G>A r.(=) p.(=) Pathogenic g.101399747C>T - Kung-Hao Liang et al.(2020) GLA_000002 rs199473684 - - Nur Aisyah Athirah
Legend   How to query