ASMER1

adipocyte associated metabolic related lncRNA 1, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 21:14816838-15064771

Previous symbols: [ "LINC02246" ]

Links

ENSG00000281903 ∙ ∙ ∙ HGNC:53135 ∙ ∙ ∙ 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 ASMER1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASMER1 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						0
Total	0	0	0	0	0

Variants in ASMER1

This is a list of pathogenic ClinVar variants found in the ASMER1 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-14964724-ATTCT-A		not specified	Uncertain significance (Jan 08, 2024)
21-14964728-T-A		Inborn genetic diseases	Uncertain significance (Jun 05, 2023)
21-14964738-G-A		Congenital anomalies of kidney and urinary tract 3 • NRIP1-related disorder	Likely benign (Jan 18, 2024)
21-14964745-C-T		NRIP1-related disorder	Uncertain significance (Dec 26, 2023)
21-14964750-C-T		Inborn genetic diseases	Uncertain significance (Jan 16, 2024)
21-14964754-G-C		Congenital anomalies of kidney and urinary tract 3	Uncertain significance (May 20, 2023)
21-14964763-A-C		NRIP1-related disorder	Likely benign (May 22, 2023)
21-14964767-T-C		NRIP1-related disorder	Benign (Nov 03, 2023)
21-14964779-G-A		NRIP1-related disorder	Benign (Oct 22, 2023)
21-14964781-T-C		Inborn genetic diseases • NRIP1-related disorder	Conflicting classifications of pathogenicity (Oct 03, 2023)
21-14964785-T-G		NRIP1-related disorder	Likely benign (Sep 26, 2022)
21-14964790-G-A			Benign (Apr 01, 2024)
21-14964792-G-A		Inborn genetic diseases	Uncertain significance (Oct 10, 2023)
21-14964808-T-C			Uncertain significance (Apr 18, 2022)
21-14964829-T-C		Inborn genetic diseases	Uncertain significance (Oct 24, 2023)
21-14964844-A-C			Uncertain significance (Jul 22, 2022)
21-14964855-T-G		Inborn genetic diseases	Uncertain significance (Nov 29, 2021)
21-14964863-A-G		NRIP1-related disorder	Benign (Jan 15, 2024)
21-14964880-T-C			Benign (Sep 04, 2023)
21-14964890-C-G		Inborn genetic diseases • NRIP1-related disorder	Conflicting classifications of pathogenicity (Dec 26, 2023)
21-14964899-A-T		Inborn genetic diseases	Uncertain significance (Jun 30, 2023)
21-14964906-G-C		Inborn genetic diseases	Uncertain significance (Jul 26, 2022)
21-14964931-C-T		Inborn genetic diseases	Uncertain significance (Nov 30, 2022)
21-14964949-G-C		Inborn genetic diseases	Uncertain significance (Aug 27, 2023)
21-14964954-G-A		Inborn genetic diseases	Uncertain significance (Oct 06, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP