Variant #0000247793 (NC_000023.10:g.100653011A>G, NM_000169.2:c.1076T>C (GLA))

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.100653011A>G
DNA change (hg38) g.101398023A>G
Published as GLA(NM_000169.3):c.1076T>C (p.I359T)
ISCN -
DB-ID GLA_000676
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +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.1076T>C r.(?) p.(Ile359Thr)
RPL36A-HNRNPH2 NM_001199973.1 ?/. - c.408+2566A>G r.(=) p.(=)
HNRNPH2 NM_019597.4 ?/. - c.-10350A>G r.(?) p.(=)
RPL36A NM_021029.5 ?/. - c.*2275A>G r.(=) p.(=)


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