TTC21B-AS1

TTC21B antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000224490

∙ NCBI:100506134 ∙ ∙ HGNC:41115 ∙ ∙ ∙ 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 TTC21B-AS1 gene.

Jeune thoracic dystrophy;Nephronophthisis (92 variants)
Nephronophthisis;Jeune thoracic dystrophy (45 variants)
not provided (40 variants)
Asphyxiating thoracic dystrophy 4;Nephronophthisis 12 (18 variants)
not specified (13 variants)
Nephronophthisis 12 (13 variants)
Asphyxiating thoracic dystrophy 4 (13 variants)
Inborn genetic diseases (10 variants)
TTC21B-related condition (6 variants)
Nephronophthisis 12;Asphyxiating thoracic dystrophy 4 (5 variants)
Connective tissue disorder (3 variants)
Jeune thoracic dystrophy (3 variants)
Nephrotic syndrome (2 variants)
Bardet-Biedl syndrome 2 (1 variants)
Joubert syndrome 1 (1 variants)
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY (1 variants)
Finnish congenital nephrotic syndrome (1 variants)
See cases (1 variants)
Infantile nephronophthisis (1 variants)
Familial aplasia of the vermis (1 variants)
Short-rib thoracic dysplasia 6 with or without polydactyly (1 variants)
Renal dysplasia and retinal aplasia (1 variants)
Retinal dystrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC21B-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 ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	10 clinvar	6 clinvar	85 clinvar	63 clinvar	11 clinvar	175
Total	10	6	85	63	11

Highest pathogenic variant AF is 0.0000131

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP