GeneBe

CYP51A1-AS1

CYP51A1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:92134563-92180725

Links

ENSG00000188693 ∙ NCBI:613126 ∙ ∙ HGNC:50694 ∙ ∙ ∙ 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 CYP51A1-AS1 gene.

  • Inborn genetic diseases (31 variants)
  • not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP51A1-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)
1
clinvar
 1
splice region
0
non coding
28
clinvar
3
clinvar
2
clinvar
 33
Total 0 0 29 3 2

Variants in CYP51A1-AS1

This is a list of pathogenic ClinVar variants found in the CYP51A1-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
7-92134740-C-T Likely benign (Jan 06, 2020)1194527
7-92134788-C-T Benign (Apr 24, 2019)1250224
7-92134814-C-A Benign (Jun 29, 2018)1279584
7-92144927-T-C not specified Uncertain significance (May 02, 2023)2529172
7-92144957-C-T not specified Uncertain significance (Dec 04, 2024)3540362
7-92145021-T-C not specified Uncertain significance (Aug 21, 2024)3540358
7-92150573-T-C not specified Uncertain significance (Dec 14, 2021)2372437
7-92150575-T-C not specified Uncertain significance (Aug 28, 2023)2621588
7-92150639-T-C not specified Uncertain significance (Sep 27, 2021)2212087
7-92159085-A-G not specified Uncertain significance (Sep 08, 2024)3540360
7-92159112-A-G not specified Uncertain significance (Apr 04, 2024)3291791
7-92159142-T-C not specified Uncertain significance (Nov 17, 2023)3121033
7-92159178-G-C not specified Uncertain significance (May 26, 2022)2291066
7-92163350-G-A not specified Uncertain significance (Aug 30, 2021)2206972
7-92163370-G-T not specified Uncertain significance (Oct 25, 2022)2319114
7-92163371-C-A not specified Uncertain significance (Sep 27, 2021)2203833
7-92163443-G-A not specified Uncertain significance (Apr 06, 2023)2533813
7-92163471-A-C not specified Uncertain significance (Dec 13, 2022)2216031
7-92163489-G-A not specified Uncertain significance (Mar 24, 2023)2529799
7-92163500-A-G not specified Uncertain significance (Aug 28, 2024)3540359
7-92163527-T-C not specified Uncertain significance (Jun 03, 2024)3291789
7-92163531-G-A not specified Uncertain significance (Jul 14, 2023)2597714
7-92163570-T-A not specified Uncertain significance (Jul 09, 2021)2209521
7-92163571-T-G not specified Uncertain significance (Jul 09, 2021)2209520
7-92163740-G-C not specified Uncertain significance (Dec 01, 2022)2331120

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP