Variant #0000693238 (NC_000023.10:g.100655636C>T, NC_000023.10(NM_000169.2):c.639+18G>A (GLA))

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.100655636C>T
DNA change (hg38) -
Published as GLA(NM_000169.3):c.639+18G>A
ISCN -
DB-ID HNRNPH2_000016 See all 2 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) 0.00026 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 2020-09-15 15:50:26 +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.639+18G>A r.(=) p.(=)
RPL36A-HNRNPH2 NM_001199973.1 -/. - c.408+5191C>T r.(=) p.(=)
HNRNPH2 NM_019597.4 -/. - c.-7725C>T r.(?) p.(=)
RPL36A NM_021029.5 -/. - c.*4900C>T r.(=) p.(=)


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