GUCA1ANB-GUCA1A

protein-coding

GUCA1ANB-GUCA1A readthrough

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring GUCA1ANB (GUCA1A neighbor) and GUCA1A (guanylate cyclase activator 1A) genes on chromosome 6. The readthrough transcript encodes the same protein as GUCA1A. [provided by RefSeq, Jul 2020]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:22U:106B:34

Top phenotype

Cone dystrophy 3

Max pathogenic AF

—

Genomic locus

chr6:42,155,406-42,180,056

External References & Databases

Ensembl (ENSG00000290147)

NCBI Gene (118142757)

HGNC:56129

GenCC

ClinVar (GUCA1ANB-GUCA1A)

Transcript & Mutation Effects

hg38 • Region Span ~24.7 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 GUCA1ANB-GUCA1A variants in ClinVar

6 Conditions Cataloged

not providedTotal: 5

Cone dystrophy 3Total: 3

Retinal dystrophyTotal: 2

Retinitis pigmentosaTotal: 1

Macular dystrophyTotal: 1

Cone-rod dystrophy 14Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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				28 clinvar	2 clinvar	30
missense	6 clinvar	16 clinvar	92 clinvar	3 clinvar	1 clinvar	118
nonsense			5 clinvar			5
start loss						0
frameshift			7 clinvar			7
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	6	16	106	31	3	162

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_000409.5	RefSeq	NP_000400.2	4	Standard
NM_001319061.2	RefSeq	NP_001305990.1	4	Standard
NM_001319062.2	RefSeq	NP_001305991.1	4	Standard
ENST00000654459.1	Ensembl	ENSP00000499539.1	4	Standard