ClinVar

NM_003611.3(OFD1):c.730A>G (p.Met244Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 13746855 (on Assembly GRCh38)
• ChrX: 13764974 (on Assembly GRCh37)

Preferred name:

NM_003611.3(OFD1):c.730A>G (p.Met244Val)

HGVS:

• NC_000023.11:g.13746855A>G
• NG_008872.1:g.17143A>G
• NM_001330209.2:c.730A>G
• NM_001330210.2:c.310A>G
• NM_003611.3:c.730A>GMANE SELECT
• NP_001317138.1:p.Met244Val
• NP_001317139.1:p.Met104Val
• NP_003602.1:p.Met244Val
• NC_000023.10:g.13764974A>G

This HGVS expression did not pass validation

Protein change:

M104V

Links:

dbSNP: rs770614769

NCBI 1000 Genomes Browser:

rs770614769

Molecular consequence:

• NM_001330209.2:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330210.2:c.310A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003611.3:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1