ClinVar

NM_032858.3(MAEL):c.971C>T (p.Pro324Leu)

Gene:

MAEL:maelstrom spermatogenic transposon silencer [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q24.1

Genomic location:

• Chr1: 167017889 (on Assembly GRCh38)
• Chr1: 166987126 (on Assembly GRCh37)

Preferred name:

NM_032858.3(MAEL):c.971C>T (p.Pro324Leu)

HGVS:

• NC_000001.11:g.167017889C>T
• NM_001286377.2:c.878C>T
• NM_001286378.2:c.803C>T
• NM_032858.3:c.971C>TMANE SELECT
• NP_001273306.1:p.Pro293Leu
• NP_001273307.1:p.Pro268Leu
• NP_116247.1:p.Pro324Leu
• NC_000001.10:g.166987126C>T
• NM_032858.1:c.971C>T

This HGVS expression did not pass validation

Protein change:

P268L

Molecular consequence:

• NM_001286377.2:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286378.2:c.803C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032858.3:c.971C>T - missense variant - [Sequence Ontology: SO:0001583]