RNU7-1

RNA, U7 small nuclear 1, the group of Small nuclear RNAs

Basic information

Previous symbols: [ "RNU7" ]

Links

ENSG00000238923

∙ NCBI:100147744 ∙ OMIM:617876 ∙ HGNC:34033 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

Aicardi-Goutieres syndrome 9 (Moderate), mode of inheritance: AR
Aicardi-Goutieres syndrome 9 (Strong), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNU7-1 gene.

not provided (11 variants)
Aicardi-Goutieres syndrome 9 (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNU7-1 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	2 clinvar	4 clinvar	3 clinvar	5 clinvar	2 clinvar	16
Total	2	4	3	5	2

Highest pathogenic variant AF is 0.000164

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP