CCDC191

Gene

coiled-coil domain containing 191

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

KIAA1407

MANE transcript

NM_020817.2

Inheritance

—

ClinVar variants

U:134B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.97

Max pathogenic AF

—

Genomic locus

chr3:113,964,137-114,056,594

External References & Databases

Ensembl (ENSG00000163617)

Transcript & Mutation Effects

hg38 • Region Span ~92.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCDC191 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 118

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020817.2. Only rare variants are included.

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			2 clinvar			2
missense			122 clinvar	5 clinvar		127
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			9 clinvar			9
Total	0	0	134	5	0	139

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 31 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020817.2	RefSeq	NP_065868.1	17	MANE Select
ENST00000295878.8	Ensembl	ENSP00000295878.3	17	MANE Select
NM_001353766.3	RefSeq	NP_001340695.1	16	Standard
NM_001353767.2	RefSeq	NP_001340696.2	15	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000295878
Coding exons: 17
Length: 92477
Individuals with no LoFs: 121672
Homozygous LoFs: 38
Heterozygous LoFs: 4038
Defined: 125748
p: 0.0163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.25	401	478	0.839	0.0000243	6195
Missense (PolyPhen)		93	109.34	0.85056		1529
Synonymous	0.990	155	171	0.904	0.00000874	1654
Loss of Function	0.200	49	50.5	0.970	0.00000252	616

Population LoF Frequency

Population	CAF	p-value	Status
African	0.011	0.011	notable
Latino/Admixed American	0.0089	0.0088	notable
Ashkenazi Jewish	0.028	0.027	notable
East Asian	0.025	0.026	notable
Finnish	0.014	0.014	notable
European (Non-Finnish)	0.021	0.021	notable
South Asian	0.0052	0.0051	notable
Other	0.017	0.017	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.32
RVIS percentile EVS: 72.8

Essentials

Essential (gene trap): N