CFAP99

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			159 clinvar	7 clinvar		166
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	159	7	0	166

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001193282.4	RefSeq	NP_001180211.2	15	MANE Select
ENST00000635017.2	Ensembl	ENSP00000488922.2	15	MANE Select
ENST00000860043.1	Ensembl	ENSP00000530102.1	15	Standard
ENST00001026765.1	Ensembl	ENSP00000696582.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

motile cilium

dbNSFP Gene Annotations

Source: dbNSFP