chr22:50626690:G>T Detail (hg38) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,065,118-51,065,118 View the variant detail on this assembly version.
hg38 chr22:50,626,690-50,626,690

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.755C>A NP_000478.3:p.Ser252Tyr
NM_001085426.2:c.755C>A NP_001078895.2:p.Ser252Tyr
NM_001085427.2:c.755C>A NP_001078896.2:p.Ser252Tyr
Summary

MGeND

Clinical significance
Variant entry
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 607574 OMIM
HGNC 713 HGNC
Ensembl ENSG00000100299 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
Pathogenic 2022-05-04 criteria provided, single submitter metachromatic leukodystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic Metachromatic leukodystrophy: identification of the first deletion in exon 1 and... UNIPROT 9090526 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr) AND not provided ClinVar Detail
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr) AND Metachromatic leukodystrophy ClinVar Detail
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point... 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
rs199476367 dbSNP
Genome
hg38
Position
chr22:50,626,690-50,626,690
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser