Variant #0000572574 (NC_000023.10:g.100652985C>G, NM_000169.2:c.1102G>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.100652985C>G
DNA change (hg38) g.101397997C>G
Published as GLA(NM_000169.3):c.1102G>C (p.A368P)
ISCN -
DB-ID HNRNPH2_000007
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 2019-07-18 18:22:55 +02:00 (CEST)
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.1102G>C r.(?) p.(Ala368Pro)
RPL36A-HNRNPH2 NM_001199973.1 ?/. - c.408+2540C>G r.(=) p.(=)
HNRNPH2 NM_019597.4 ?/. - c.-10376C>G r.(?) p.(=)
RPL36A NM_021029.5 ?/. - c.*2249C>G r.(=) p.(=)


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