chr22:50626234:A>G Detail (hg38) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,064,662-51,064,662 View the variant detail on this assembly version.
hg38 chr22:50,626,234-50,626,234

HGVS

Type Transcript Protein
RefSeq NM_001085428.2:c.641T>C NP_001078897.1:p.Leu214Ser
NM_001085426.2:c.899T>C NP_001078895.2:p.Leu300Ser
NM_001085427.2:c.899T>C NP_001078896.2:p.Leu300Ser
Summary

MGeND

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

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 607574 OMIM
HGNC 713 HGNC
Ensembl ENSG00000100299 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66343049 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic late-infantile metachromatic leukodystrophy germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-11-14 criteria provided, single submitter not provided germline not provided Detail
Likely pathogenic 2023-05-09 criteria provided, single submitter metachromatic leukodystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic NA CLINVAR Detail
0.514 Leukodystrophy, Metachromatic Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachroma... UNIPROT 9819708 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) AND not provided ClinVar Detail
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) AND Metachromatic leukodystrophy ClinVar Detail
NA DisGeNET Detail
Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: ... 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
rs199476389 dbSNP
Genome
hg38
Position
chr22:50,626,234-50,626,234
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1204
Mean of sample read depth (HGVD)
113.92
Standard deviation of sample read depth (HGVD)
60.59
Number of reference allele (HGVD)
2407
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.152823920265781E-4
Gene Symbol (HGVD)
ARSA
Genome browser