chr22:51065689:C>A Detail (hg19) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,065,689-51,065,689
hg38 chr22:50,627,261-50,627,261 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.370G>T NP_000478.3:p.Gly124Cys
NM_001085426.2:c.370G>T NP_001078895.2:p.Gly124Cys
NM_001085427.2:c.370G>T NP_001078896.2:p.Gly124Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-05-27 criteria provided, single submitter metachromatic leukodystrophy germline not applicable Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic NA CLINVAR Detail
0.514 Leukodystrophy, Metachromatic We have identified a new mutation in the ASA gene of a patient with adult-type M... UNIPROT 7902317 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.370G>T (p.Gly124Cys) AND Metachromatic leukodystrophy ClinVar Detail
NA DisGeNET Detail
We have identified a new mutation in the ASA gene of a patient with adult-type MLD. 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
rs74315461 dbSNP
Genome
hg19
Position
chr22:51,065,689-51,065,689
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser