Variant #0000288387 (NC_000023.10:g.100653773C>T, NM_000169.2:c.801G>A (GLA))

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100653773C>T
DNA change (hg38) g.101398785C>T
Published as GLA(NM_000169.2):c.801G>A (p.M267I)
ISCN -
DB-ID GLA_000190 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.801G>A r.(?) p.(Met267Ile)
RPL36A-HNRNPH2 NM_001199973.1 +/. - c.408+3328C>T r.(=) p.(=)
HNRNPH2 NM_019597.4 +/. - c.-9588C>T r.(?) p.(=)
RPL36A NM_021029.5 +/. - c.*3037C>T r.(=) p.(=)


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