PYCR1-AS1

Basic information

Region (hg38): 17:81932398-81933058

Links

ENSG00000263585 ∙ ∙ ∙ HGNC:56889 ∙ ∙ ∙ 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 PYCR1-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PYCR1-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						0
Total	0	0	0	0	0

Variants in PYCR1-AS1

This is a list of pathogenic ClinVar variants found in the PYCR1-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
17-81932445-G-A		Cutis laxa	Uncertain significance (Jan 12, 2018)
17-81932468-G-A		Cutis Laxa, Recessive	Uncertain significance (Jun 14, 2016)
17-81932515-C-A		Cutis laxa	Uncertain significance (Jan 13, 2018)
17-81932592-C-T		Cutis laxa	Uncertain significance (Jan 13, 2018)
17-81932710-C-G		Cutis laxa	Uncertain significance (Jan 13, 2018)
17-81932732-C-T		Cutis laxa	Uncertain significance (Jan 13, 2018)
17-81932737-G-A		Cutis laxa	Uncertain significance (Jan 13, 2018)
17-81932774-G-A		Cutis laxa	Uncertain significance (Jan 12, 2018)
17-81932862-G-C		Cutis laxa	Uncertain significance (Jan 13, 2018)
17-81932893-C-T		PYCR1-related disorder	Uncertain significance (Jul 26, 2024)
17-81932907-C-A		PYCR1-related de Barsy syndrome;Autosomal recessive cutis laxa type 2B • Cutis laxa	Uncertain significance (Jun 16, 2022)
17-81932942-C-T		Cutis laxa	Benign (Jul 26, 2018)
17-81932969-A-G		Cutis laxa	Uncertain significance (Jan 13, 2018)
17-81932985-G-A		Cutis laxa	Uncertain significance (Jan 12, 2018)
17-81933017-CCT-C		Cutis Laxa, Recessive	Uncertain significance (Jun 14, 2016)
17-81933019-T-A		Cutis laxa	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP