ClinVar

NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 13760154 (on Assembly GRCh38)
• ChrX: 13778273 (on Assembly GRCh37)

Preferred name:

NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)

HGVS:

• NC_000023.11:g.13760154T>C
• NG_008872.1:g.30442T>C
• NM_001330209.2:c.1574T>C
• NM_001330210.2:c.1274T>C
• NM_003611.3:c.1694T>CMANE SELECT
• NP_001317138.1:p.Val525Ala
• NP_001317139.1:p.Val425Ala
• NP_003602.1:p.Val565Ala
• NC_000023.10:g.13778273T>C
• NM_003611.2:c.1694T>C

This HGVS expression did not pass validation

Protein change:

V425A

Links:

dbSNP: rs529916753

NCBI 1000 Genomes Browser:

rs529916753

Molecular consequence:

• NM_001330209.2:c.1574T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330210.2:c.1274T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003611.3:c.1694T>C - missense variant - [Sequence Ontology: SO:0001583]