Variant #0000984343 (NC_000023.10:g.100653930T>C, NM_000169.2:c.644A>G (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.100653930T>C
DNA change (hg38) -
Published as GLA(NM_000169.3):c.644A>G (p.N215S)
ISCN -
DB-ID GLA_000208 See all 6 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) 1.0E-5 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2024-04-19 20:27:30 +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.644A>G r.(?) p.(Asn215Ser)
RPL36A-HNRNPH2 NM_001199973.1 +/. - c.408+3485T>C r.(=) p.(=)
HNRNPH2 NM_019597.4 +/. - c.-9431T>C r.(?) p.(=)
RPL36A NM_021029.5 +/. - c.*3194T>C r.(=) p.(=)


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