KIAA1210

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			3 clinvar	2 clinvar		5
missense			175 clinvar	23 clinvar	4 clinvar	202
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	181	25	4	210

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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_001394962.1	RefSeq	NP_001381891.1	11	MANE Select
ENST00000691062.1	Ensembl	ENSP00000510348.1	11	MANE Select
NM_020721.1	RefSeq	NP_065772.1	14	Standard
ENST00000402510.2	Ensembl	ENSP00000384670.2	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

acrosomal vesicle
basal ectoplasmic specialization

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000402510
Coding exons: 14
Length: 71945
Individuals with no LoFs: 124515
Homozygous LoFs: 6
Heterozygous LoFs: 10
Defined: 124531
p: 0.0000642

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.235	615	599	1.03	0.0000424	11154
Missense (PolyPhen)		95	87.451	1.0863		1937
Synonymous	-0.328	233	227	1.03	0.0000167	3388
Loss of Function	4.54	13	46.3	0.281	0.00000354	828

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00041	0.00032	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000068	0.000046	rare
European (Non-Finnish)	0.00010	0.000071	rare
South Asian	0.000059	0.000033	rare
Other	0.00025	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 2.84
RVIS percentile EVS: 99.1

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0689

Gene Damage Prediction

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