Transcript #00000455 (NM_000169.2, GLA gene)

Transcript name galactosidase alpha
Gene name GLA (galactosidase alpha)
Chromosome X
Transcript - NCBI ID NM_000169.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000160.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -
Date created 2021-04-06 12:11:53 +08:00 (CST)
Date last edited N/A


Variants

2 entries on 1 page. Showing entries 1 - 2.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
+/. - c.610T>C - r.(?) p.(Trp204Arg) Likely pathogenic​
+/. - c.640-801G>A IVS4+919G>A r.(=) p.(=) Pathogenic
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