ADAMTSL4-AS2

ADAMTSL4 antisense RNA 2, the group of Antisense RNAs

Basic information

Links

ENSG00000237781

∙ NCBI:100289061 ∙ ∙ HGNC:40895 ∙ ∙ ∙ 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 ADAMTSL4-AS2 gene.

not provided (477 variants)
Ectopia lentis 2, isolated, autosomal recessive (89 variants)
Ectopia lentis et pupillae (53 variants)
Inborn genetic diseases (37 variants)
Ectopia lentis et pupillae;Ectopia lentis 2, isolated, autosomal recessive (7 variants)
ADAMTSL4-related condition (5 variants)
not specified (3 variants)
Ectopia lentis (3 variants)
See cases (1 variants)
Ectopia lentis 2, isolated, autosomal recessive;Ectopia lentis et pupillae (1 variants)
Isolated ectopia lentis (1 variants)
Craniosynostosis with ectopia lentis (1 variants)
Craniosynostosis syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMTSL4-AS2 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)	2 clinvar		1 clinvar			3
splice region						0
non coding	39 clinvar	8 clinvar	266 clinvar	160 clinvar	45 clinvar	518
Total	41	8	267	160	45

Highest pathogenic variant AF is 0.00118

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP