GORAB-AS1

GORAB antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:170460452-170538383

Links

ENSG00000231407 ∙ NCBI:101928650 ∙ ∙ HGNC:54051 ∙ ∙ ∙ 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 GORAB-AS1 gene.

• not provided (34 variants)
• Geroderma osteodysplastica (14 variants)
• Inborn genetic diseases (6 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GORAB-AS1 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding		2	21	11	7	41
Total	0	2	21	11	7

Variants in GORAB-AS1

This is a list of pathogenic ClinVar variants found in the GORAB-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-170532026-T-C			Benign (May 12, 2021)
1-170532148-GA-CT		Geroderma osteodysplastica	Pathogenic/Likely pathogenic (Dec 30, 2017)
1-170532151-G-A		Geroderma osteodysplastica	Uncertain significance (Apr 27, 2017)
1-170532153-G-T		Inborn genetic diseases • Geroderma osteodysplastica	Uncertain significance (Apr 06, 2024)
1-170532156-G-A			Pathogenic (Sep 27, 2023)
1-170532155-T-TGGGCAGCAGTGTTGGCAGTCGC			Pathogenic (Dec 17, 2022)
1-170532157-G-C			Uncertain significance (Apr 30, 2022)
1-170532159-C-A			Uncertain significance (Aug 09, 2022)
1-170532159-C-T			Uncertain significance (Aug 19, 2022)
1-170532160-A-G			Likely benign (Feb 20, 2022)
1-170532160-A-T			Likely benign (Oct 23, 2023)
1-170532162-C-T			Uncertain significance (Nov 01, 2021)
1-170532163-A-C		GORAB-related disorder	Likely benign (Jan 22, 2024)
1-170532163-A-G			Likely benign (Oct 04, 2023)
1-170532167-T-C		Geroderma osteodysplastica	Conflicting classifications of pathogenicity (Dec 14, 2023)
1-170532171-C-A		Geroderma osteodysplastica	Uncertain significance (Apr 11, 2023)
1-170532174-T-G			Uncertain significance (Aug 22, 2022)
1-170532175-C-T			Likely benign (Jan 20, 2024)
1-170532175-C-CG		Geroderma osteodysplastica • Inborn genetic diseases	Conflicting classifications of pathogenicity (Jan 25, 2024)
1-170532178-G-A			Likely benign (Jan 25, 2024)
1-170532178-G-T			Likely benign (Nov 15, 2023)
1-170532180-C-T		Inborn genetic diseases	Uncertain significance (Jun 29, 2023)
1-170532184-G-C			Likely benign (Jul 12, 2021)
1-170532185-A-G		Inborn genetic diseases	Uncertain significance (Feb 26, 2024)
1-170532186-G-T			Uncertain significance (Apr 12, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP