RPL37A-DT

RPL37A divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 2:216479030-216499047

Links

ENSG00000232485 ∙ NCBI:100507554 ∙ ∙ HGNC:40510 ∙ ∙ ∙ 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 RPL37A-DT gene.

• Schimke immuno-osseous dysplasia (48 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL37A-DT 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			25	24	4	53
Total	0	0	25	24	4

Variants in RPL37A-DT

This is a list of pathogenic ClinVar variants found in the RPL37A-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
2-216482470-G-A			Likely benign (Feb 01, 2020)
2-216482547-G-T			Benign (Nov 29, 2019)
2-216482705-C-T			Benign (Aug 31, 2020)
2-216482719-T-C		Schimke immuno-osseous dysplasia	Likely benign (Jan 18, 2024)
2-216482723-C-A		Schimke immuno-osseous dysplasia	Likely benign (Apr 09, 2023)
2-216482727-C-G		Schimke immuno-osseous dysplasia	Likely benign (Mar 04, 2023)
2-216482727-C-T		Schimke immuno-osseous dysplasia	Likely benign (Oct 26, 2023)
2-216482734-G-A		Schimke immuno-osseous dysplasia	Likely benign (Jan 01, 2020)
2-216482737-G-T		Schimke immuno-osseous dysplasia	Uncertain significance (Nov 08, 2022)
2-216482753-A-C		Schimke immuno-osseous dysplasia • SMARCAL1-related disorder	Conflicting classifications of pathogenicity (Jan 29, 2024)
2-216482755-GATC-G		Schimke immuno-osseous dysplasia	Uncertain significance (Oct 28, 2022)
2-216482756-A-G		Schimke immuno-osseous dysplasia	Uncertain significance (Mar 09, 2022)
2-216482761-C-T		Schimke immuno-osseous dysplasia	Benign (Jan 31, 2024)
2-216482762-G-A		Schimke immuno-osseous dysplasia • Inborn genetic diseases	Uncertain significance (Mar 04, 2024)
2-216482764-C-T		Schimke immuno-osseous dysplasia	Likely benign (Jul 16, 2023)
2-216482767-A-G		Schimke immuno-osseous dysplasia	Likely benign (Apr 02, 2023)
2-216482770-C-T		Schimke immuno-osseous dysplasia	Likely benign (Sep 07, 2022)
2-216482770-CC-TT		Schimke immuno-osseous dysplasia	Uncertain significance (Sep 12, 2017)
2-216482771-CAGA-C		Schimke immuno-osseous dysplasia	Uncertain significance (Nov 27, 2023)
2-216482776-G-A		Schimke immuno-osseous dysplasia	Likely benign (Jul 14, 2023)
2-216482779-C-T		Schimke immuno-osseous dysplasia	Likely benign (Jan 24, 2023)
2-216482782-T-C		Schimke immuno-osseous dysplasia	Likely benign (Sep 15, 2022)
2-216482788-A-G		Schimke immuno-osseous dysplasia	Likely benign (Aug 28, 2023)
2-216482791-A-G		Schimke immuno-osseous dysplasia	Likely benign (Mar 24, 2020)
2-216482794-A-G		Schimke immuno-osseous dysplasia	Likely benign (Nov 10, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP