ClinVar

NM_004928.3(CFAP410):c.291C>T (p.Asn97=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44333115 (on Assembly GRCh38)
• Chr21: 45752998 (on Assembly GRCh37)

Preferred name:

NM_004928.3(CFAP410):c.291C>T (p.Asn97=)

HGVS:

• NC_000021.9:g.44333115G>A
• NG_032952.1:g.11288C>T
• NM_001271440.2:c.291C>T
• NM_001271441.2:c.291C>T
• NM_001271442.1:c.168C>T
• NM_004928.3:c.291C>TMANE SELECT
• NP_001258369.1:p.Asn97=
• NP_001258370.1:p.Asn97=
• NP_001258371.1:p.Asn56=
• NP_004919.1:p.Asn97=
• NC_000021.8:g.45752998G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001271440.2:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271441.2:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271442.1:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004928.3:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]