ClinVar

NM_004928.3(CFAP410):c.729G>A (p.Leu243=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44330240 (on Assembly GRCh38)
• Chr21: 45750123 (on Assembly GRCh37)

Preferred name:

NM_004928.3(CFAP410):c.729G>A (p.Leu243=)

HGVS:

• NC_000021.9:g.44330240C>T
• NG_032952.1:g.14163G>A
• NM_001271440.2:c.726G>A
• NM_001271441.2:c.1086G>A
• NM_001271442.1:c.603G>A
• NM_004928.2:c.729G>A
• NM_004928.3:c.729G>AMANE SELECT
• NP_001258369.1:p.Leu242=
• NP_001258370.1:p.Leu362=
• NP_001258371.1:p.Leu201=
• NP_004919.1:p.Leu243=
• NC_000021.8:g.45750123C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs374549037

NCBI 1000 Genomes Browser:

rs374549037

Molecular consequence:

• NM_001271440.2:c.726G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271441.2:c.1086G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271442.1:c.603G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004928.3:c.729G>A - synonymous variant - [Sequence Ontology: SO:0001819]