MME-AS1

MME antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000240666 ∙ ∙ ∙ HGNC:40376 ∙ ∙ ∙ 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 MME-AS1 gene.

• not provided (153 variants)
• Inborn genetic diseases (11 variants)
• Charcot-Marie-Tooth disease axonal type 2T (9 variants)
• Spinocerebellar ataxia 43 (4 variants)
• Charcot-Marie-Tooth disease type 2;Charcot-Marie-Tooth disease axonal type 2T;MME-related autosomal dominant Charcot Marie Tooth disease type 2 (1 variants)
• Charcot-Marie-Tooth disease axonal type 2T;Spinocerebellar ataxia 43 (1 variants)
• Peripheral neuropathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MME-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	3	10	86	55	13	167
Total	3	10	86	55	13

Highest pathogenic variant AF is 0.00000657

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP