ClinVar

NM_003611.3(OFD1):c.2260+12G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 13760732 (on Assembly GRCh38)
• ChrX: 13778851 (on Assembly GRCh37)

Preferred name:

NM_003611.3(OFD1):c.2260+12G>A

HGVS:

• NC_000023.11:g.13760732G>A
• NG_008872.1:g.31020G>A
• NM_001330209.2:c.2140+12G>A
• NM_001330210.2:c.1840+12G>A
• NM_003611.3:c.2260+12G>AMANE SELECT
• NC_000023.10:g.13778851G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs375507459

NCBI 1000 Genomes Browser:

rs375507459

Molecular consequence:

• NM_001330209.2:c.2140+12G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330210.2:c.1840+12G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003611.3:c.2260+12G>A - intron variant - [Sequence Ontology: SO:0001627]