GeneBe

LINC00649

long intergenic non-protein coding RNA 649, the group of Long intergenic non-protein coding RNAs

Basic information

Region (hg38): 21:33915534-34039762

Links

ENSG00000237945 ∙ NCBI:100506334 ∙ ∙ HGNC:44305 ∙ ∙ ∙ 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 LINC00649 gene.

  • Severe global developmental delay;Microcephaly;Seizure;Dysphagia (1 variants)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC00649 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
1
clinvar
 1
Total 1 0 0 0 0

Variants in LINC00649

This is a list of pathogenic ClinVar variants found in the LINC00649 region.

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

Position Type Phenotype Significance ClinVar
21-33915730-G-A Microcephaly;Seizure;Dysphagia;Severe global developmental delay • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 Pathogenic (Dec 22, 2021)1804024
21-33915739-G-A not specified Uncertain significance (Sep 09, 2024)3458167
21-33915744-G-C not specified Uncertain significance (Feb 05, 2024)3131834
21-33915745-A-G not specified Uncertain significance (Nov 09, 2021)3131833
21-33915757-C-A not specified Uncertain significance (Oct 26, 2022)3131841
21-33915757-C-G not specified Uncertain significance (Jul 27, 2024)3458176

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP