Variant #0001027420 (NC_000023.10:g.100653054A>C, NM_000169.2:c.1033T>G (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.100653054A>C
DNA change (hg38) -
Published as GLA(NM_000169.3):c.1033T>G (p.S345A)
ISCN -
DB-ID HNRNPH2_000055
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2025-02-07 18:57:27 +01:00 (CET)
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.1033T>G r.(?) p.(Ser345Ala)
RPL36A-HNRNPH2 NM_001199973.1 ?/. - c.408+2609A>C r.(=) p.(=)
HNRNPH2 NM_019597.4 ?/. - c.-10307A>C r.(?) p.(=)
RPL36A NM_021029.5 ?/. - c.*2318A>C r.(=) p.(=)


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