Variant #0000572597 (NC_000023.10:g.100656672A>C, NM_000169.2:c.495T>G (GLA))

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100656672A>C
DNA change (hg38) g.101401684A>C
Published as -
ISCN -
DB-ID HNRNPH2_000019
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +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.495T>G r.(?) p.(Asp165Glu)
RPL36A-HNRNPH2 NM_001199973.1 +?/. - c.408+6227A>C r.(=) p.(=)
HNRNPH2 NM_019597.4 +?/. - c.-6689A>C r.(?) p.(=)
RPL36A NM_021029.5 +?/. - c.*5936A>C r.(=) p.(=)


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