CDKN2B-AS1

CDKN2B antisense RNA 1, the group of Antisense RNAs

Basic information

Previous symbols: [ "CDKN2BAS" ]

Links

ENSG00000240498

∙ NCBI:100048912 ∙ OMIM:613149 ∙ HGNC:34341 ∙ ∙ ∙ 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 CDKN2B-AS1 gene.

Familial melanoma (160 variants)
Hereditary cancer-predisposing syndrome (146 variants)
not provided (47 variants)
not specified (32 variants)
Melanoma-pancreatic cancer syndrome (12 variants)
Melanoma and neural system tumor syndrome (9 variants)
Three Vessel Coronary Disease (9 variants)
Malignant tumor of breast (5 variants)
Inborn genetic diseases (5 variants)
Melanoma, cutaneous malignant, susceptibility to, 2 (4 variants)
Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, susceptibility to, 2 (1 variants)
Acute lymphoid leukemia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDKN2B-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	3 clinvar	13 clinvar	159 clinvar	81 clinvar	7 clinvar	263
Total	3	13	159	81	7

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP