CCDC33

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				1 clinvar		1
missense			131 clinvar	16 clinvar		147
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	131	17	0	148

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_025055.5	RefSeq	NP_079331.3	19	MANE Select
ENST00000398814.8	Ensembl	ENSP00000381795.3	19	MANE Select
NM_001287181.2	RefSeq	NP_001274110.1	8	Standard
NM_182791.4	RefSeq	NP_877592.2	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000398814
Coding exons: 19
Length: 119201
Individuals with no LoFs: 124646
Homozygous LoFs: 0
Heterozygous LoFs: 167
Defined: 124813
p: 0.000669

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.00592	428	428	1.00	0.0000247	4892
Missense (PolyPhen)		151	151.87	0.9943		1689
Synonymous	-0.0231	176	176	1.00	0.0000100	1497
Loss of Function	1.05	34	41.3	0.824	0.00000222	459

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0030	0.0030	notable
Latino/Admixed American	0.00072	0.00072	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00050	0.00045	rare
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.00052	0.00052	rare
South Asian	0.00066	0.00065	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0870

Intolerance Scores

LoFtool: 0.941
RVIS EVS: 1.14
RVIS percentile EVS: 92.34

Essentials

Essential (CRISPR): E
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.471

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	Medium	Medium
Primary Immunodeficiency	High	High	High
Cancer	High	High	High