ClinVar

NM_001201539.2(ARSF):c.600C>T (p.Ile200=)

Gene:

ARSF:arylsulfatase F [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.33

Genomic location:

• ChrX: 3084436 (on Assembly GRCh38)
• ChrX: 3002477 (on Assembly GRCh37)

Preferred name:

NM_001201539.2(ARSF):c.600C>T (p.Ile200=)

HGVS:

• NC_000023.11:g.3084436C>T
• NG_012822.2:g.49203C>T
• NM_001201538.2:c.600C>T
• NM_001201539.2:c.600C>TMANE SELECT
• NM_004042.5:c.600C>T
• NP_001188467.1:p.Ile200=
• NP_001188468.1:p.Ile200=
• NP_004033.2:p.Ile200=
• NC_000023.10:g.3002477C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001201538.2:c.600C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001201539.2:c.600C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004042.5:c.600C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1