KIAA1210

KIAA1210

Basic information

Region (hg38): X:119078635-119150579

Links

ENSG00000250423 ∙ NCBI:57481 ∙ OMIM:300995 ∙ HGNC:29218 ∙ Uniprot:Q9ULL0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIAA1210 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA1210 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			48	14	5	67
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding				1	1	2
Total	0	0	48	17	6

Variants in KIAA1210

This is a list of pathogenic ClinVar variants found in the KIAA1210 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-119081336-G-A		not specified	Likely benign (Feb 10, 2022)
X-119081358-A-G		not specified	Uncertain significance (Jun 07, 2022)
X-119081388-A-C		not specified	Uncertain significance (Apr 05, 2023)
X-119081411-A-T		not specified	Uncertain significance (Sep 23, 2023)
X-119081483-A-G		not specified	Uncertain significance (Apr 08, 2024)
X-119083026-G-A		not specified	Uncertain significance (Jul 25, 2023)
X-119085395-C-G		not specified	Uncertain significance (Dec 05, 2022)
X-119085474-T-G		not specified	Uncertain significance (Jul 16, 2024)
X-119085501-A-G		not specified	Likely benign (Jul 09, 2021)
X-119085504-G-A		not specified	Uncertain significance (May 14, 2024)
X-119085507-T-C		not specified	Uncertain significance (Mar 31, 2024)
X-119086652-C-T			Likely benign (Sep 01, 2022)
X-119086713-C-T		not specified	Uncertain significance (May 06, 2022)
X-119086759-T-G		not specified	Uncertain significance (Nov 25, 2024)
X-119086773-G-A		not specified	Uncertain significance (Dec 06, 2022)
X-119086998-A-C		not specified	Uncertain significance (Sep 14, 2023)
X-119087073-C-G		not specified	Uncertain significance (Dec 19, 2022)
X-119087094-G-A		not specified	Conflicting classifications of pathogenicity (Nov 17, 2022)
X-119087112-T-A		not specified	Uncertain significance (Jun 16, 2024)
X-119087149-C-T		not specified	Likely benign (Jan 23, 2023)
X-119087152-T-A		not specified	Uncertain significance (Aug 27, 2024)
X-119087166-G-A		not specified	Uncertain significance (May 06, 2024)
X-119087344-G-T		not specified	Uncertain significance (Mar 08, 2024)
X-119087355-A-G		not specified	Uncertain significance (Dec 09, 2023)
X-119087410-C-T		not specified	Uncertain significance (Jan 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA1210	protein_coding	protein_coding	ENST00000402510	14	71945

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00910	0.991	124515	6	10	124531	0.0000642

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.235	615	599	1.03	0.0000424	11154
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000414	0.000323
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000685	0.0000464
European (Non-Finnish)	0.000104	0.0000708
Middle Eastern	0.00	0.00
South Asian	0.0000586	0.0000328
Other	0.000250	0.000166

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 2.84
• rvis_percentile_EVS: 99.1

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.273

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0689

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gm14569

Gene ontology

• Cellular component: acrosomal vesicle;basal ectoplasmic specialization