chrX:101398074:C>T Detail (hg38) (GLA, RPL36A-HNRNPH2)

Information

Genome

Assembly Position
hg19 chrX:100,653,062-100,653,062 View the variant detail on this assembly version.
hg38 chrX:101,398,074-101,398,074

HGVS

Type Transcript Protein
RefSeq NM_000169.2:c.1025G>A NP_000160.1:p.Arg342Gln
Ensemble ENST00000218516.4:c.1025G>A ENST00000218516.4:p.Arg342Gln
ENST00000649178.1:c.1148G>A ENST00000649178.1:p.Arg383Gln
Type Transcript Protein
RefSeq NM_001199973.1:c.300+2617C>T
NM_001199974.1:c.177+6252C>T
Ensemble ENST00000409170.3:c.300+2617C>T
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 300644 OMIM
HGNC 4296 HGNC
Ensembl ENSG00000102393 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 48349 HGNC
Ensembl ENSG00000257529 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-22 criteria provided, multiple submitters, no conflicts Fabry disease germline unknown Detail
Pathogenic 2022-05-12 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.665 Fabry disease NA UNIPROT Detail
0.665 Fabry disease The diagnosis of FD was confirmed by demonstration of a decreased alpha-galactos... BeFree 11531972 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) AND Fabry disease ClinVar Detail
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) AND not provided ClinVar Detail
NA DisGeNET Detail
The diagnosis of FD was confirmed by demonstration of a decreased alpha-galactosidase A activity, an... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28935493 dbSNP
Genome
hg38
Position
chrX:101,398,074-101,398,074
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser