chr22:50625668:GA> Detail (hg38) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,064,096-51,064,097 
hg38 chr22:50,625,668-50,625,669

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.1120_1121delTC NP_000478.3:p.Phe376LeufsTer33
NM_001085426.2:c.1120_1121delTC NP_001078895.2:p.Phe376LeufsTer33
NM_001085427.2:c.1120_1121delTC NP_001078896.2:p.Phe376LeufsTer33
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA 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
rs398123412 dbSNP
Genome
hg38
Position
chr22:50,625,668-50,625,669
Variant Type
snv
Reference Allele
GA
Alternative Allele
-
Genome browser