Variant #0000681973 (NC_000023.10:g.100668146C>T, GLA(NM_000169.2):c.-5255G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.100668146C>T
DNA change (hg38) -
Published as HNRNPH2(NM_001032393.2):c.1170C>T (p.G390=)
ISCN -
DB-ID HNRNPH2_000039
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLA NM_000169.2 -?/. - c.-5255G>A r.(?) p.(=)
RPL36A-HNRNPH2 NM_001199973.1 -?/. - c.*1166C>T r.(=) p.(=)
ARMCX4 NM_001256155.1 -?/. - c.-75087C>T r.(?) p.(=)
HNRNPH2 NM_019597.4 -?/. - c.1170C>T r.(?) p.(Gly390=)
RPL36A NM_021029.5 -?/. - c.*17410C>T r.(=) p.(=)