ClinVar

NM_000487.6(ARSA):c.684+33C>T

Gene:

ARSA:arylsulfatase A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50626801 (on Assembly GRCh38)
• Chr22: 51065229 (on Assembly GRCh37)

Preferred name:

NM_000487.6(ARSA):c.684+33C>T

HGVS:

• NC_000022.11:g.50626801G>A
• NG_009260.2:g.6379C>T
• NM_000487.6:c.684+33C>TMANE SELECT
• NM_001085425.3:c.684+33C>T
• NM_001085426.3:c.684+33C>T
• NM_001085427.3:c.684+33C>T
• NM_001085428.3:c.426+33C>T
• NM_001362782.2:c.426+33C>T
• NC_000022.10:g.51065229G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs6151416

NCBI 1000 Genomes Browser:

rs6151416

Molecular consequence:

• NM_000487.6:c.684+33C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001085425.3:c.684+33C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001085426.3:c.684+33C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001085427.3:c.684+33C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001085428.3:c.426+33C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001362782.2:c.426+33C>T - intron variant - [Sequence Ontology: SO:0001627]