Variant #0000856223 (NC_000023.10:g.100652999C>T, NM_000169.2:c.1088G>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.100652999C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID GLA_000383 See all 3 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) 6.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2022-05-09 15:47:41 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLA NM_000169.2 +/. - c.1088G>A r.(?) p.(Arg363His)
RPL36A-HNRNPH2 NM_001199973.1 +/. - c.408+2554C>T r.(=) p.(=)
HNRNPH2 NM_019597.4 +/. - c.-10362C>T r.(?) p.(=)
RPL36A NM_021029.5 +/. - c.*2263C>T r.(=) p.(=)


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