ClinVar

NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)

Gene:

OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 13760577 (on Assembly GRCh38)
• ChrX: 13778696 (on Assembly GRCh37)

Preferred name:

NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)

HGVS:

• NC_000023.11:g.13760577C>T
• NG_008872.1:g.30865C>T
• NM_001330209.2:c.1997C>T
• NM_001330210.2:c.1697C>T
• NM_003611.3:c.2117C>TMANE SELECT
• NP_001317138.1:p.Thr666Ile
• NP_001317139.1:p.Thr566Ile
• NP_003602.1:p.Thr706Ile
• NC_000023.10:g.13778696C>T
• NM_003611.2:c.2117C>T

This HGVS expression did not pass validation

Protein change:

T566I

Links:

dbSNP: rs773224811

NCBI 1000 Genomes Browser:

rs773224811

Molecular consequence:

• NM_001330209.2:c.1997C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330210.2:c.1697C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003611.3:c.2117C>T - missense variant - [Sequence Ontology: SO:0001583]