ClinVar

NM_001130528.3(SPAG9):c.1745C>T (p.Thr582Met)

Gene:

SPAG9:sperm associated antigen 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

• Chr17: 50998537 (on Assembly GRCh38)
• Chr17: 49075898 (on Assembly GRCh37)

Preferred name:

NM_001130528.3(SPAG9):c.1745C>T (p.Thr582Met)

HGVS:

• NC_000017.11:g.50998537G>A
• NG_029710.1:g.127329C>T
• NM_001130527.3:c.1715C>T
• NM_001130528.3:c.1745C>TMANE SELECT
• NM_001251971.2:c.1274C>T
• NM_003971.6:c.1703C>T
• NP_001123999.1:p.Thr572Met
• NP_001124000.1:p.Thr582Met
• NP_001238900.1:p.Thr425Met
• NP_003962.3:p.Thr568Met
• NC_000017.10:g.49075898G>A
• NM_001130528.2:c.1745C>T

This HGVS expression did not pass validation

Protein change:

T425M

Molecular consequence:

• NM_001130527.3:c.1715C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130528.3:c.1745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001251971.2:c.1274C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003971.6:c.1703C>T - missense variant - [Sequence Ontology: SO:0001583]