C1QTNF3-AMACR

C1QTNF3-AMACR readthrough (NMD candidate)

Basic information

Region (hg38): 5:33987174-34124528

Links

ENSG00000273294 ∙ NCBI:100534612 ∙ ∙ HGNC:49198 ∙ ∙ ∙ 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 C1QTNF3-AMACR gene.

• Alpha-methylacyl-CoA racemase deficiency (310 variants)
• not provided (75 variants)
• Inborn genetic diseases (21 variants)
• not specified (19 variants)
• Congenital bile acid synthesis defect 4 (8 variants)
• Oculocutaneous albinism (8 variants)
• Congenital bile acid synthesis defect 4;Alpha-methylacyl-CoA racemase deficiency (5 variants)
• AMACR-related condition (4 variants)
• Spastic ataxia (1 variants)
• Seizure (1 variants)
• Mitochondrial complex I deficiency (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C1QTNF3-AMACR gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			12	7		19
Total	0	0	12	7	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Cellular component: extracellular region;collagen trimer