MRAP-AS1

MRAP antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 21:32283682-32308737

Links

ENSG00000232623 ∙ NCBI:105372779 ∙ ∙ HGNC:40108 ∙ ∙ ∙ 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 MRAP-AS1 gene.

• Glucocorticoid deficiency 2 (6 variants)
• Inborn genetic diseases (5 variants)
• not provided (4 variants)
• MRAP-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRAP-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		1	9	1	2	13
Total	0	1	9	1	2

Variants in MRAP-AS1

This is a list of pathogenic ClinVar variants found in the MRAP-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
21-32291843-G-A		Glucocorticoid deficiency 2	Uncertain significance (Jan 13, 2018)
21-32291844-C-T		Glucocorticoid deficiency 2	Uncertain significance (Jan 13, 2018)
21-32291974-C-T		Glucocorticoid deficiency 2	Uncertain significance (May 12, 2023)
21-32293013-A-G		Glucocorticoid deficiency 2	Benign (Jan 12, 2018)
21-32293052-C-T		Glucocorticoid deficiency 2	Likely benign (Jan 12, 2018)
21-32293076-C-T		Glucocorticoid deficiency 2	Likely benign (Jan 13, 2018)
21-32293102-AAG-A		Glucocorticoid Deficiency	Uncertain significance (Jun 14, 2016)
21-32293123-G-C		Glucocorticoid deficiency 2	Benign (Jan 13, 2018)
21-32298972-A-G		Glucocorticoid deficiency 1	Pathogenic (Sep 30, 2017)
21-32298974-G-A		Glucocorticoid deficiency 2 • Glucocorticoid deficiency 1	Pathogenic (Sep 30, 2017)
21-32298982-G-A		Inborn genetic diseases	Uncertain significance (Apr 11, 2023)
21-32298987-AACGCCTC-A		Glucocorticoid deficiency 2	Pathogenic (Oct 01, 2006)
21-32298989-C-A		Inborn genetic diseases	Uncertain significance (Jun 05, 2024)
21-32298990-G-A		Inborn genetic diseases	Uncertain significance (Mar 18, 2024)
21-32299006-A-G		Inborn genetic diseases	Uncertain significance (Jun 07, 2024)
21-32299024-T-C		Inborn genetic diseases	Uncertain significance (Feb 14, 2024)
21-32299047-G-A		Inborn genetic diseases	Uncertain significance (Jan 15, 2021)
21-32299052-C-T		MRAP-related disorder	Likely benign (Jul 10, 2024)
21-32299077-CG-C		Glucocorticoid deficiency 1 • Glucocorticoid deficiency 2	Pathogenic (May 22, 2022)
21-32299078-G-A		Glucocorticoid deficiency 2	Pathogenic (Feb 01, 2005)
21-32299078-G-C		Glucocorticoid deficiency 2	Pathogenic (May 12, 2023)
21-32299078-G-T		Glucocorticoid deficiency 2	Pathogenic (Feb 01, 2005)
21-32299080-A-AT		Glucocorticoid deficiency 2	Pathogenic (Feb 01, 2005)
21-32299092-G-C		Glucocorticoid deficiency 2	Uncertain significance (Jan 12, 2018)
21-32306635-C-T		Glucocorticoid deficiency 2	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP