ClinVar

NM_003611.3(OFD1):c.839_840del (p.Lys280fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 13749435 - 13749436 (on Assembly GRCh38)
• ChrX: 13767554 - 13767555 (on Assembly GRCh37)

Preferred name:

NM_003611.3(OFD1):c.839_840del (p.Lys280fs)

HGVS:

• NC_000023.11:g.13749437_13749438del
• NG_008872.1:g.19725_19726del
• NM_001330209.2:c.839_840del
• NM_001330210.2:c.419_420del
• NM_003611.3:c.839_840delMANE SELECT
• NP_001317138.1:p.Lys280fs
• NP_001317139.1:p.Lys140fs
• NP_003602.1:p.Lys280fs
• NC_000023.10:g.13767556_13767557del
• NM_003611.2:c.837_838delAA
• NM_003611.2:c.839_840delAA

This HGVS expression did not pass validation

Protein change:

K140fs

Links:

dbSNP: rs312262852

NCBI 1000 Genomes Browser:

rs312262852

Molecular consequence:

• NM_001330209.2:c.839_840del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001330210.2:c.419_420del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_003611.3:c.839_840del - frameshift variant - [Sequence Ontology: SO:0001589]