SLX1A-SULT1A3

SLX1A-SULT1A3 readthrough (NMD candidate)

Basic information

Region (hg38): 16:30193892-30204310

Links

ENSG00000213599 ∙ NCBI:100526830 ∙ ∙ HGNC:44437 ∙ ∙ ∙ 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 SLX1A-SULT1A3 gene.

• Inborn genetic diseases (6 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLX1A-SULT1A3 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			6	2		8
Total	0	0	6	2	0

Variants in SLX1A-SULT1A3

This is a list of pathogenic ClinVar variants found in the SLX1A-SULT1A3 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-30194750-C-G		not specified	Uncertain significance (Sep 07, 2022)
16-30194783-G-A		not specified	Uncertain significance (Apr 20, 2024)
16-30194789-C-G		not specified	Uncertain significance (Feb 27, 2024)
16-30194907-C-A		not specified	Uncertain significance (Apr 20, 2024)
16-30194914-C-A		not specified	Uncertain significance (Oct 10, 2023)
16-30194923-G-T		not specified	Uncertain significance (Jun 05, 2024)
16-30194950-G-A		not specified	Uncertain significance (Jun 22, 2021)
16-30194962-C-G		not specified	Uncertain significance (Apr 12, 2024)
16-30194996-G-A		not specified	Uncertain significance (Oct 13, 2023)
16-30195003-G-A		not specified	Uncertain significance (Mar 15, 2024)
16-30195058-G-A		not specified	Uncertain significance (Dec 01, 2022)
16-30197061-G-A		not specified	Uncertain significance (Nov 09, 2021)
16-30197073-C-T		not specified	Uncertain significance (May 30, 2024)
16-30197272-G-C		not specified	Uncertain significance (Jun 13, 2024)
16-30197297-C-T			Likely benign (Mar 01, 2023)
16-30197315-G-A			Likely benign (Jul 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Sulfation Biotransformation Reaction;Metapathway biotransformation Phase I and II (Consensus)

Haploinsufficiency Scores

• pHI: 0.816