MIR638

microRNA 638, the group of MicroRNAs

Basic information

Region (hg38): 19:10718404-10718503

Previous symbols: [ "MIRN638" ]

Links

ENSG00000207972

∙ NCBI:693223 ∙ ∙ HGNC:32894 ∙ ∙ ∙ 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 MIR638 gene.

Charcot-Marie-Tooth disease dominant intermediate B (6 variants)
not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR638 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			2 clinvar	4 clinvar		6
Total	0	0	2	4	0

Variants in MIR638

This is a list of pathogenic ClinVar variants found in the MIR638 region.

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

Position	Phenotype	Significance	ClinVar
19-10718406-G-A	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jun 27, 2022)	533826
19-10718407-A-AGCGGGCGCGGCAGGGATC	Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Sep 27, 2023)	703760
19-10718409-C-T	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Aug 09, 2022)	1404112
19-10718410-G-T	Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Sep 28, 2018)	1118686
19-10718417-G-A	Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jul 11, 2022)	2015955
19-10718418-C-G	Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jun 27, 2022)	1534416

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP