TAT-AS1

TAT antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:71564952-71578187

Links

ENSG00000260886 ∙ NCBI:100132529 ∙ ∙ HGNC:51369 ∙ ∙ ∙ 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 TAT-AS1 gene.

• Tyrosinemia type II (304 variants)
• not provided (17 variants)
• Hypertyrosinemia (7 variants)
• Inborn genetic diseases (4 variants)
• not specified (3 variants)
• - (2 variants)
• TAT-related condition (1 variants)
• Microcephaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAT-AS1 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	11	38	83	177	14	323
Total	11	38	83	177	14

Highest pathogenic variant AF is 0.0000131

Variants in TAT-AS1

This is a list of pathogenic ClinVar variants found in the TAT-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-71566867-TA-T		Hypertyrosinemia	Uncertain significance (Jun 14, 2016)
16-71566868-A-T		Tyrosinemia type II	Benign (Jan 13, 2018)
16-71567078-C-T		Tyrosinemia type II	Uncertain significance (Jan 12, 2018)
16-71567088-C-G		Tyrosinemia type II	Likely benign (Jan 12, 2018)
16-71567089-T-C		Tyrosinemia type II	Uncertain significance (Jan 12, 2018)
16-71567153-A-G		Tyrosinemia type II	Uncertain significance (Jan 13, 2018)
16-71567161-T-C		Tyrosinemia type II	Uncertain significance (Jan 13, 2018)
16-71567281-C-T		Tyrosinemia type II	Likely benign (Jan 12, 2018)
16-71567292-C-T		Tyrosinemia type II	Uncertain significance (Jan 13, 2018)
16-71567331-C-G		Tyrosinemia type II	Likely benign (Jan 12, 2018)
16-71567370-C-T		Tyrosinemia type II	Uncertain significance (Jan 13, 2018)
16-71567402-C-T		Tyrosinemia type II	Uncertain significance (Jan 13, 2018)
16-71567431-A-C		Tyrosinemia type II	Uncertain significance (Jan 13, 2018)
16-71567462-A-G		Tyrosinemia type II	Likely benign (Jan 12, 2018)
16-71567484-C-G		Tyrosinemia type II	Uncertain significance (Jan 13, 2018)
16-71567563-C-T		Tyrosinemia type II	Uncertain significance (Jan 12, 2018)
16-71567665-A-T		Tyrosinemia type II	Uncertain significance (Jan 13, 2018)
16-71567735-C-T		Tyrosinemia type II	Uncertain significance (Apr 27, 2017)
16-71567741-C-A		Tyrosinemia type II	Uncertain significance (Apr 27, 2017)
16-71567747-T-TAG		Hypertyrosinemia	Likely benign (Jun 14, 2016)
16-71567791-TTTC-T		Hypertyrosinemia	Uncertain significance (Jun 14, 2016)
16-71567891-C-G		Tyrosinemia type II	Uncertain significance (Jan 13, 2018)
16-71567892-G-C		Tyrosinemia type II	Uncertain significance (Jan 12, 2018)
16-71567893-A-T		Tyrosinemia type II	Uncertain significance (Jan 13, 2018)
16-71567925-C-T		Tyrosinemia type II	Uncertain significance (Jan 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP