SAA2-SAA4

SAA2-SAA4 readthrough

Basic information

Region (hg38): 11:18231423-18248635

Links

ENSG00000255071

∙ NCBI:100528017 ∙ ∙ HGNC:39550 ∙ ∙ ∙ 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 SAA2-SAA4 gene.

Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SAA2-SAA4 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			1 clinvar			1
Total	0	0	1	0	0

Variants in SAA2-SAA4

This is a list of pathogenic ClinVar variants found in the SAA2-SAA4 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-18245418-G-A		not specified	Uncertain significance (Jun 21, 2023)	2596057

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

Biological process: positive chemotaxis;cell chemotaxis
Cellular component: extracellular space
Molecular function: chemoattractant activity