ClinVar

NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 13749490 (on Assembly GRCh38)
• ChrX: 13767609 (on Assembly GRCh37)

Preferred name:

NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)

HGVS:

• NC_000023.11:g.13749490G>A
• NG_008872.1:g.19778G>A
• NM_001330209.2:c.892G>A
• NM_001330210.2:c.472G>A
• NM_003611.3:c.892G>AMANE SELECT
• NP_001317138.1:p.Gly298Arg
• NP_001317139.1:p.Gly158Arg
• NP_003602.1:p.Gly298Arg
• NC_000023.10:g.13767609G>A
• NM_003611.2:c.892G>A

This HGVS expression did not pass validation

Protein change:

G158R

Links:

dbSNP: rs778349684

NCBI 1000 Genomes Browser:

rs778349684

Molecular consequence:

• NM_001330209.2:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330210.2:c.472G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003611.3:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]