ClinVar

NM_004928.3(CFAP410):c.373+15C>T

Gene:

CFAP410:cilia and flagella associated protein 410 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44333018 (on Assembly GRCh38)
• Chr21: 45752901 (on Assembly GRCh37)

Preferred name:

NM_004928.3(CFAP410):c.373+15C>T

HGVS:

• NC_000021.9:g.44333018G>A
• NG_032952.1:g.11385C>T
• NM_001271440.2:c.373+15C>T
• NM_001271441.2:c.373+15C>T
• NM_001271442.1:c.250+15C>T
• NM_004928.3:c.373+15C>TMANE SELECT
• NC_000021.8:g.45752901G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001271440.2:c.373+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001271441.2:c.373+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001271442.1:c.250+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004928.3:c.373+15C>T - intron variant - [Sequence Ontology: SO:0001627]