C19orf44

Gene

chromosome 19 open reading frame 44

Gene summary

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

MANE transcript

NM_032207.4

Inheritance

ClinVar variants

U:22B:1

Top phenotype

C19orf44-related disorder

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr19:16,496,394-16,521,352

External References & Databases

Ensembl (ENSG00000105072)

Transcript & Mutation Effects

hg38 • Region Span ~25.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

inherited retinal dystrophyLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0019118

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to C19orf44 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 18

not providedTotal: 2

C19orf44-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032207.4. 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	1 clinvar		3
missense			13 clinvar			13
nonsense			1 clinvar			1
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	22	1	0	23

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032207.4	RefSeq	NP_115583.1	7	MANE Select
ENST00000221671.8	Ensembl	ENSP00000221671.2	7	MANE Select
NM_001288834.2	RefSeq	NP_001275763.1	6	Standard
ENST00000593380.1	Ensembl	ENSP00000472255.1	7	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: ENST00000221671
Coding exons: 7
Length: 25042
Individuals with no LoFs: 125515
Homozygous LoFs: 0
Heterozygous LoFs: 233
Defined: 125748
p: 0.000927

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.416	362	385	0.940	0.0000227	4284
Missense (PolyPhen)		85	90.564	0.93856		1148
Synonymous	0.624	155	165	0.938	0.0000117	1351
Loss of Function	1.16	16	21.9	0.732	0.00000102	279

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00074	0.00072	rare
Ashkenazi Jewish	0.0025	0.0025	notable
East Asian	0.00045	0.00044	rare
Finnish	0.0025	0.0025	notable
European (Non-Finnish)	0.00084	0.00084	rare
South Asian	0.00043	0.00042	rare
Other	0.00099	0.00098	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.215
RVIS EVS: -1
RVIS percentile EVS: 8.47

Essentials

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

Gene Damage Prediction

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