ClinVar

NM_152581.4(MOSPD2):c.891C>T (p.Thr297=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 14912260 (on Assembly GRCh38)
• ChrX: 14930382 (on Assembly GRCh37)

Preferred name:

NM_152581.4(MOSPD2):c.891C>T (p.Thr297=)

HGVS:

• NC_000023.11:g.14912260C>T
• NG_017159.2:g.43856C>T
• NM_001177475.2:c.702C>T
• NM_001330241.2:c.891C>T
• NM_152581.4:c.891C>TMANE SELECT
• NP_001170946.1:p.Thr234=
• NP_001317170.1:p.Thr297=
• NP_689794.1:p.Thr297=
• NC_000023.10:g.14930382C>T
• NM_152581.3:c.891C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs141915581

NCBI 1000 Genomes Browser:

rs141915581

Molecular consequence:

• NM_001177475.2:c.702C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330241.2:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152581.4:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]