GUCA1ANB-GUCA1A

GUCA1ANB-GUCA1A readthrough

Basic information

Region (hg38): 6:42155406-42180056

Links

ENSG00000290147 ∙ NCBI:118142757 ∙ ∙ HGNC:56129 ∙ ∙ ∙ 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 GUCA1ANB-GUCA1A gene.

• not provided (164 variants)
• Cone dystrophy 3 (66 variants)
• Retinal dystrophy (11 variants)
• Retinitis Pigmentosa, Dominant (7 variants)
• Cone dystrophy (5 variants)
• Inborn genetic diseases (4 variants)
• not specified (3 variants)
• Cone/cone-rod dystrophy (3 variants)
• Retinitis pigmentosa (2 variants)
• Macular dystrophy (2 variants)
• Isolated macular dystrophy (1 variants)
• Rod-cone dystrophy (1 variants)
• Usher syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GUCA1ANB-GUCA1A 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				28	2	30
missense	7	15	76	8		106
nonsense			4			4
start loss						0
frameshift			5			5
inframe indel		1	5			6
splice donor/acceptor (+/-2bp)			5	4	2	11
splice region						0
non coding			20	24	8	52
Total	7	16	115	64	12

Variants in GUCA1ANB-GUCA1A

This is a list of pathogenic ClinVar variants found in the GUCA1ANB-GUCA1A region.

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

Position	Type	Phenotype	Significance	ClinVar
6-42155515-T-C		Cone dystrophy 3	Uncertain significance (Jan 12, 2018)
6-42155578-C-T		Cone dystrophy 3	Uncertain significance (Apr 27, 2017)
6-42155579-A-C		Cone dystrophy 3	Benign (Jan 12, 2018)
6-42155585-G-A		Cone dystrophy 3	Uncertain significance (Jan 12, 2018)
6-42155586-G-T		Cone dystrophy 3	Uncertain significance (Jan 13, 2018)
6-42162912-C-T		Cone dystrophy 3	Benign (Jan 12, 2018)
6-42162964-G-A		Cone dystrophy 3	Uncertain significance (Jan 13, 2018)
6-42162989-C-A		Cone dystrophy 3	Uncertain significance (Jan 12, 2018)
6-42162999-G-A		Cone dystrophy 3	Uncertain significance (Jan 13, 2018)
6-42163005-G-A		Cone dystrophy 3	Uncertain significance (Jan 12, 2018)
6-42163084-G-A		Cone dystrophy 3	Uncertain significance (Jan 12, 2018)
6-42173372-C-T		Cone dystrophy 3	Uncertain significance (Jan 13, 2018)
6-42173526-G-A		Cone dystrophy 3	Uncertain significance (Jan 13, 2018)
6-42173531-G-A		Cone dystrophy 3	Benign (Jan 13, 2018)
6-42173588-A-G		Cone dystrophy 3	Benign (Jul 05, 2018)
6-42173619-C-T			Likely benign (Nov 28, 2022)
6-42173622-C-G			Uncertain significance (Sep 12, 2022)
6-42173622-C-T		not specified • Cone dystrophy 3	Benign/Likely benign (Jan 25, 2024)
6-42173623-G-A		Cone dystrophy 3	Conflicting classifications of pathogenicity (Nov 06, 2023)
6-42173624-T-C			Uncertain significance (Jun 11, 2022)
6-42173633-G-C			Uncertain significance (Jan 08, 2024)
6-42173638-T-C			Uncertain significance (Jun 24, 2021)
6-42173640-A-C			Likely benign (Sep 05, 2023)
6-42173642-TGGAGGA-T			Uncertain significance (Jan 18, 2017)
6-42173654-G-C		Retinal dystrophy	Uncertain significance (Aug 28, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP