ClinVar

NM_152598.4(MARCHF10):c.1478C>T (p.Ser493Leu)

Genes:

MARCHF10:membrane associated ring-CH-type finger 10 [Gene - OMIM - HGNC]
LOC105371855:uncharacterized LOC105371855 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.2

Genomic location:

• Chr17: 62736390 (on Assembly GRCh38)
• Chr17: 60813751 (on Assembly GRCh37)

Preferred name:

NM_152598.4(MARCHF10):c.1478C>T (p.Ser493Leu)

HGVS:

• NC_000017.11:g.62736390G>A
• NM_001100875.3:c.1478C>T
• NM_001288779.2:c.1592C>T
• NM_001288780.2:c.1475C>T
• NM_152598.4:c.1478C>TMANE SELECT
• NP_001094345.1:p.Ser493Leu
• NP_001275708.1:p.Ser531Leu
• NP_001275709.1:p.Ser492Leu
• NP_689811.2:p.Ser493Leu
• NC_000017.10:g.60813751G>A
• NM_001288779.1:c.1592C>T
• NR_147886.1:n.745G>A

This HGVS expression did not pass validation

Protein change:

S492L

Molecular consequence:

• NM_001100875.3:c.1478C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288779.2:c.1592C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288780.2:c.1475C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152598.4:c.1478C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_147886.1:n.745G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]