RN7SL431P

RNA, 7SL, cytoplasmic 431, pseudogene

Basic information

Region (hg38): 1:154166245-154166549

Links

ENSG00000264384 ∙ NCBI:106866913 ∙ ∙ HGNC:46447 ∙ ∙ ∙ 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 RN7SL431P gene.

• Congenital myopathy 4B, autosomal recessive (5 variants)
• Congenital myopathy with fiber type disproportion (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RN7SL431P 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			5			5
Total	0	0	5	0	0

Variants in RN7SL431P

This is a list of pathogenic ClinVar variants found in the RN7SL431P region.

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

Position	Type	Phenotype	Significance	ClinVar
1-154166276-G-A		Congenital myopathy 4B, autosomal recessive • Congenital myopathy with fiber type disproportion	Uncertain significance (Jan 13, 2018)
1-154166285-C-T		Congenital myopathy with fiber type disproportion • Congenital myopathy 4B, autosomal recessive	Uncertain significance (Jan 13, 2018)
1-154166416-C-A		Congenital myopathy 4B, autosomal recessive • Congenital myopathy with fiber type disproportion	Uncertain significance (Jan 12, 2018)
1-154166490-C-T		Congenital myopathy 4B, autosomal recessive • Congenital myopathy with fiber type disproportion	Uncertain significance (Jan 13, 2018)
1-154166540-T-C		Congenital myopathy 4B, autosomal recessive • Congenital myopathy with fiber type disproportion	Uncertain significance (Mar 30, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP