ClinVar

NM_194302.4(CFAP65):c.2157G>A (p.Pro719=)

Gene:

CFAP65:cilia and flagella associated protein 65 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 219027704 (on Assembly GRCh38)
• Chr2: 219892426 (on Assembly GRCh37)

Preferred name:

NM_194302.4(CFAP65):c.2157G>A (p.Pro719=)

HGVS:

• NC_000002.12:g.219027704C>T
• NG_051336.1:g.18848G>A
• NM_001278295.1:c.2124G>A
• NM_001278296.2:c.1962G>A
• NM_194302.4:c.2157G>AMANE SELECT
• NP_001265224.1:p.Pro708=
• NP_001265225.1:p.Pro654=
• NP_919278.2:p.Pro719=
• NC_000002.11:g.219892426C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001278295.1:c.2124G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278296.2:c.1962G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_194302.4:c.2157G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1