CALCRL-AS1

CALCRL and TFPI antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:187003220-187556288

Links

ENSG00000224063 ∙ NCBI:105373786 ∙ ∙ HGNC:55863 ∙ ∙ ∙ 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 CALCRL-AS1 gene.

• Inborn genetic diseases (13 variants)
• not provided (5 variants)
• Lymphatic malformation 8 (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CALCRL-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	1		12	1	7	21
Total	1	0	12	1	7

Variants in CALCRL-AS1

This is a list of pathogenic ClinVar variants found in the CALCRL-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
2-187346278-C-A			Benign (Dec 31, 2019)
2-187346314-G-A		not specified	Uncertain significance (Jun 13, 2022)
2-187346330-C-T		not specified	Uncertain significance (Dec 15, 2023)
2-187352080-T-C		Lymphatic malformation 8	Benign (Jul 14, 2021)
2-187352176-G-T		not specified	Uncertain significance (Apr 06, 2023)
2-187352302-G-A		not specified	Uncertain significance (Jul 06, 2021)
2-187359080-T-C		not specified	Uncertain significance (Dec 18, 2023)
2-187359330-A-G		Lymphatic malformation 8	Benign (Jul 14, 2021)
2-187360602-G-A			Benign (Dec 31, 2019)
2-187363386-GCTA-G		Lymphatic malformation 8	Pathogenic (Mar 04, 2021)
2-187363403-G-C		not specified	Uncertain significance (May 05, 2023)
2-187363403-G-T		not specified	Uncertain significance (Jan 05, 2022)
2-187363414-C-T		not specified	Uncertain significance (Jul 25, 2023)
2-187378983-T-C		not specified	Uncertain significance (Feb 15, 2023)
2-187379025-G-C		not specified	Uncertain significance (Mar 21, 2023)
2-187380463-A-G		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
2-187380785-C-T		not specified	Likely benign (Oct 12, 2022)
2-187383279-C-G		not specified	Uncertain significance (Oct 27, 2023)
2-187383295-G-A		not specified	Likely benign (Sep 07, 2022)
2-187466986-T-G		not specified	Uncertain significance (Mar 25, 2024)
2-187466990-T-G		not specified	Uncertain significance (Feb 27, 2023)
2-187466997-C-G		not specified	Uncertain significance (May 31, 2022)
2-187467037-T-C		not specified	Uncertain significance (Oct 25, 2023)
2-187467833-C-T		not specified	Uncertain significance (Sep 26, 2023)
2-187467845-A-G		not specified	Uncertain significance (Dec 26, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP