ClinVar

NM_004928.3(CFAP410):c.319T>C (p.Tyr107His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44333087 (on Assembly GRCh38)
• Chr21: 45752970 (on Assembly GRCh37)

Preferred name:

NM_004928.3(CFAP410):c.319T>C (p.Tyr107His)

HGVS:

• NC_000021.9:g.44333087A>G
• NG_032952.1:g.11316T>C
• NM_001271440.2:c.319T>C
• NM_001271441.2:c.319T>C
• NM_001271442.1:c.196T>C
• NM_004928.3:c.319T>CMANE SELECT
• NP_001258369.1:p.Tyr107His
• NP_001258370.1:p.Tyr107His
• NP_001258371.1:p.Tyr66His
• NP_004919.1:p.Tyr107His
• NC_000021.8:g.45752970A>G
• NM_004928.2:c.319T>C

This HGVS expression did not pass validation

Protein change:

Y107H; TYR107HIS

Links:

OMIM: 603191.0008; dbSNP: rs763623409

NCBI 1000 Genomes Browser:

rs763623409

Molecular consequence:

• NM_001271440.2:c.319T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271441.2:c.319T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271442.1:c.196T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004928.3:c.319T>C - missense variant - [Sequence Ontology: SO:0001583]