chr22:51064111:T>C Detail (hg19) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,064,111-51,064,111
hg38 chr22:50,625,683-50,625,683 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.1108-2A>G
NM_001085426.2:c.1108-2A>G
NM_001085427.2:c.1108-2A>G
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
Pathogenic 2023-08-17 criteria provided, multiple submitters, no conflicts metachromatic leukodystrophy germline unknown Detail
Pathogenic 2015-07-09 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.1108-2A>G AND Metachromatic leukodystrophy ClinVar Detail
NM_000487.6(ARSA):c.1108-2A>G AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398123411 dbSNP
Genome
hg19
Position
chr22:51,064,111-51,064,111
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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