CIMAP1D

Basic information

Region (hg38): 19:463346-474983

Links

ENSG00000181781 ∙ ∙ ∙ HGNC:26841 ∙ ∙ ∙ 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 CIMAP1D gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIMAP1D 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 CIMAP1D

This is a list of pathogenic ClinVar variants found in the CIMAP1D region.

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

Position	Type	Phenotype	Significance	ClinVar
19-463863-A-C		not specified	Uncertain significance (Nov 21, 2023)
19-463882-G-C		not specified	Uncertain significance (Jan 06, 2023)
19-463914-C-T		not specified	Uncertain significance (Aug 03, 2022)
19-463934-C-T		not specified	Uncertain significance (May 31, 2023)
19-463966-C-T		not specified	Uncertain significance (May 30, 2024)
19-464022-G-A		not specified	Uncertain significance (Oct 06, 2021)
19-464029-G-A		not specified	Uncertain significance (Aug 16, 2021)
19-464032-G-A		not specified	Uncertain significance (Jan 07, 2022)
19-464034-C-T		not specified	Uncertain significance (Feb 22, 2023)
19-464035-G-A		not specified	Uncertain significance (Dec 12, 2023)
19-464047-T-C		not specified	Uncertain significance (Nov 27, 2023)
19-464062-G-A		not specified	Uncertain significance (May 17, 2023)
19-464067-C-T		not specified	Uncertain significance (Jan 10, 2023)
19-464068-G-A		not specified	Uncertain significance (Jan 30, 2024)
19-464103-G-A		not specified	Uncertain significance (Jan 18, 2022)
19-464113-T-A		not specified	Uncertain significance (Aug 08, 2023)
19-464125-C-G		not specified	Uncertain significance (Oct 04, 2022)
19-464140-C-T		not specified	Likely benign (Aug 02, 2021)
19-464142-G-C		not specified	Uncertain significance (Feb 16, 2023)
19-464143-G-A		not specified	Uncertain significance (Apr 07, 2022)
19-464143-G-C		not specified	Uncertain significance (Sep 26, 2023)
19-464145-G-A		not specified	Uncertain significance (Dec 27, 2023)
19-464163-G-A		not specified	Uncertain significance (Jan 18, 2022)
19-464254-G-T		not specified	Uncertain significance (Jul 17, 2023)
19-464271-C-T		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP