Variant #0000288388 (NC_000023.10:g.100653459G>A, NM_000169.2:c.898C>T (GLA))

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100653459G>A
DNA change (hg38) g.101398471G>A
Published as GLA(NM_000169.2):c.898C>T (p.L300F)
ISCN -
DB-ID GLA_000168 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLA NM_000169.2 +?/. - c.898C>T r.(?) p.(Leu300Phe)
RPL36A-HNRNPH2 NM_001199973.1 +?/. - c.408+3014G>A r.(=) p.(=)
HNRNPH2 NM_019597.4 +?/. - c.-9902G>A r.(?) p.(=)
RPL36A NM_021029.5 +?/. - c.*2723G>A r.(=) p.(=)


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