ClinVar

NM_152581.4(MOSPD2):c.733G>T (p.Val245Leu)

Gene:

MOSPD2:motile sperm domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 14911267 (on Assembly GRCh38)
• ChrX: 14929389 (on Assembly GRCh37)

Preferred name:

NM_152581.4(MOSPD2):c.733G>T (p.Val245Leu)

HGVS:

• NC_000023.11:g.14911267G>T
• NG_017159.2:g.42863G>T
• NM_001177475.2:c.544G>T
• NM_001330241.2:c.733G>T
• NM_152581.4:c.733G>TMANE SELECT
• NP_001170946.1:p.Val182Leu
• NP_001317170.1:p.Val245Leu
• NP_689794.1:p.Val245Leu
• NC_000023.10:g.14929389G>T
• NM_152581.3:c.733G>T

This HGVS expression did not pass validation

Protein change:

V182L

Molecular consequence:

• NM_001177475.2:c.544G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330241.2:c.733G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152581.4:c.733G>T - missense variant - [Sequence Ontology: SO:0001583]