RBBP8NL

protein-coding

RBBP8 N-terminal like

Gene summary

Located in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C20orf151

MANE transcript

NM_080833.3

Inheritance

—

ClinVar variants

U:118B:18

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.33

Max pathogenic AF

—

Genomic locus

chr20:62,410,237-62,427,539

External References & Databases

Ensembl (ENSG00000130701)

Transcript & Mutation Effects

hg38 • Region Span ~17.3 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 RBBP8NL variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 130

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_080833.3. 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			1 clinvar			1
missense			115 clinvar	17 clinvar	1 clinvar	133
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	118	17	1	136

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_080833.3	RefSeq	NP_543023.2	13	MANE Select
ENST00000252998.2	Ensembl	ENSP00000252998.1	13	MANE Select
ENST00001132250.1	Ensembl	ENSP00000802644.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000252998
Coding exons: 13
Length: 17297
Individuals with no LoFs: 125513
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 125524
p: 0.0000438

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.426	342	365	0.937	0.0000223	4150
Missense (PolyPhen)		66	84.468	0.78136		1091
Synonymous	-0.141	168	166	1.01	0.0000108	1429
Loss of Function	3.09	8	24.5	0.327	0.00000119	291

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00019	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000030	0.000026	rare
South Asian	0.000069	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N

Gene Damage Prediction

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