CRIPTO

Basic information

Region (hg38): 3:46574534-46582457

Links

ENSG00000241186 ∙ ∙ ∙ HGNC:11701 ∙ ∙ ∙ 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 CRIPTO gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRIPTO 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 CRIPTO

This is a list of pathogenic ClinVar variants found in the CRIPTO region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-46577270-A-C			Benign (Nov 27, 2018)
3-46577748-T-A			Benign (Jan 19, 2019)
3-46577992-G-A		not specified	Uncertain significance (Jun 05, 2024)
3-46578042-C-T			Benign (Feb 02, 2019)
3-46578064-G-A			Likely benign (Sep 29, 2019)
3-46578125-C-G			Likely benign (Sep 29, 2019)
3-46578283-G-A			Likely benign (Sep 29, 2019)
3-46578784-T-A			Benign (Feb 02, 2019)
3-46579028-T-C			Likely benign (Sep 29, 2019)
3-46579072-C-T			Likely benign (Jan 09, 2019)
3-46579104-G-T		not specified	Uncertain significance (Jan 03, 2024)
3-46579114-A-T		not specified	Likely benign (Feb 07, 2023)
3-46579124-T-C			Benign (Nov 27, 2018)
3-46579155-A-G			Likely benign (May 03, 2018)
3-46579258-C-A		CRIPTO-related disorder	Uncertain significance (Apr 13, 2023)
3-46579265-G-A		not specified	Likely benign (Dec 03, 2021)
3-46579267-G-A		not specified	Uncertain significance (Aug 10, 2024)
3-46579270-T-G			Benign (Sep 29, 2019)
3-46579285-G-A		not specified	Uncertain significance (Jan 03, 2024)
3-46579311-G-A			Benign (Sep 29, 2019)
3-46579322-G-A		not specified	Uncertain significance (May 04, 2023)
3-46579328-G-C			Uncertain significance (Feb 28, 2023)
3-46579409-T-A			Benign (Sep 29, 2019)
3-46579471-T-G			Likely benign (Sep 29, 2019)
3-46579567-A-G			Likely benign (Sep 29, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP