ClinVar

NM_001303.4(COX10):c.781G>T (p.Ala261Ser)

Genes:

COX10:cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [Gene - OMIM - HGNC]
LOC105943586:distal CMT1A-REP [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

• Chr17: 14192074 (on Assembly GRCh38)
• Chr17: 14095391 (on Assembly GRCh37)

Preferred name:

NM_001303.4(COX10):c.781G>T (p.Ala261Ser)

HGVS:

• NC_000017.11:g.14192074G>T
• NG_008034.1:g.127673G>T
• NG_042191.1:g.21641G>T
• NM_001303.4:c.781G>TMANE SELECT
• NP_001294.2:p.Ala261Ser
• NC_000017.10:g.14095391G>T
• NM_001303.3:c.781G>T

This HGVS expression did not pass validation

Protein change:

A261S

Links:

dbSNP: rs138560674

NCBI 1000 Genomes Browser:

rs138560674

Molecular consequence:

• NM_001303.4:c.781G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1