ClinVar

NM_003410.4(ZFX):c.1554G>A (p.Met518Ile)

Gene:

ZFX:zinc finger protein X-linked [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.11

Genomic location:

• ChrX: 24210512 (on Assembly GRCh38)
• ChrX: 24228629 (on Assembly GRCh37)

Preferred name:

NM_003410.4(ZFX):c.1554G>A (p.Met518Ile)

HGVS:

• NC_000023.11:g.24210512G>A
• NG_021253.2:g.65776G>A
• NM_001178084.2:c.1554G>A
• NM_001178085.1:c.1554G>A
• NM_001178086.2:c.867G>A
• NM_001178095.2:c.*314G>A
• NM_001330327.2:c.1671G>A
• NM_003410.4:c.1554G>AMANE SELECT
• NP_001171555.1:p.Met518Ile
• NP_001171556.1:p.Met518Ile
• NP_001171557.1:p.Met289Ile
• NP_001317256.1:p.Met557Ile
• NP_003401.2:p.Met518Ile
• NC_000023.10:g.24228629G>A

This HGVS expression did not pass validation

Protein change:

M289I

Molecular consequence:

• NM_001178095.2:c.*314G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001178084.2:c.1554G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178085.1:c.1554G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178086.2:c.867G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330327.2:c.1671G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003410.4:c.1554G>A - missense variant - [Sequence Ontology: SO:0001583]