EMC1-AS1

EMC1 antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000230424

∙ NCBI:101927895 ∙ ∙ HGNC:54050 ∙ ∙ ∙ 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 EMC1-AS1 gene.

not provided (681 variants)
Inborn genetic diseases (45 variants)
Cerebellar atrophy, visual impairment, and psychomotor retardation; (40 variants)
not specified (8 variants)
Cerebellar atrophy;Global developmental delay (2 variants)
EMC1-Related Disorder (1 variants)
Microcephaly (1 variants)
See cases (1 variants)
Congenital anomaly of kidney and urinary tract (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EMC1-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 ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	29 clinvar	21 clinvar	374 clinvar	258 clinvar	23 clinvar	705
Total	29	21	374	258	23

Highest pathogenic variant AF is 0.0000263

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP