ClinVar

NM_015426.5(POC1A):c.814-279C>T

Gene:

POC1A:POC1 centriolar protein A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.2

Genomic location:

• Chr3: 52125460 (on Assembly GRCh38)
• Chr3: 52159476 (on Assembly GRCh37)

Preferred name:

NM_015426.5(POC1A):c.814-279C>T

HGVS:

• NC_000003.12:g.52125460G>A
• NG_032947.1:g.34231C>T
• NM_001161580.2:c.814-279C>T
• NM_001161581.2:c.700-279C>T
• NM_015426.5:c.814-279C>TMANE SELECT
• NC_000003.11:g.52159476G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs13081228

NCBI 1000 Genomes Browser:

rs13081228

Molecular consequence:

• NM_001161580.2:c.814-279C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001161581.2:c.700-279C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_015426.5:c.814-279C>T - intron variant - [Sequence Ontology: SO:0001627]