GeneBe

MYHAS

myosin heavy chain gene cluster antisense RNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 17:10291816-10684235

Links

ENSG00000272975 ∙ NCBI:100128560 ∙ ∙ HGNC:50609 ∙ ∙ ∙ 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 MYHAS gene.

  • Myopathy, proximal, and ophthalmoplegia (972 variants)
  • not provided (442 variants)
  • Inborn genetic diseases (310 variants)
  • Hecht syndrome (117 variants)
  • not specified (77 variants)
  • Inclusion Body Myopathy, Dominant (34 variants)
  • MYH2-related condition (9 variants)
  • Carney complex - trismus - pseudocamptodactyly syndrome (5 variants)
  • Carney complex - trismus - pseudocamptodactyly syndrome;Hecht syndrome (4 variants)
  • MYH8-related condition (4 variants)
  • Arthrogryposis, distal, type 1A (2 variants)
  • Myopathy (2 variants)
  • Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (1 variants)
  • 13 conditions (1 variants)
  • Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome (1 variants)
  • Muscular dystrophy (1 variants)
  • MYH2 related disorder (1 variants)
  • MYH2-related myopathy (1 variants)
  • Malignant tumor of prostate (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYHAS 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
38
clinvar
41
clinvar
974
clinvar
459
clinvar
135
clinvar
 1647
Total 38 41 974 459 135

Highest pathogenic variant AF is 0.000158

Variants in MYHAS

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

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

Position Type Phenotype Significance ClinVar
17-10301618-T-A not specified Uncertain significance (Sep 09, 2021)2377148
17-10301640-C-T not specified Uncertain significance (Feb 15, 2023)2484768
17-10303257-T-A not specified Uncertain significance (Jan 30, 2024)3156619
17-10303277-G-T not specified Uncertain significance (Oct 26, 2022)2320591
17-10303286-C-G not specified Uncertain significance (Dec 03, 2021)2223543
17-10303405-T-C not specified Uncertain significance (May 08, 2023)2519610
17-10303408-C-G not specified Uncertain significance (Jan 03, 2024)3156605
17-10303494-C-T not specified Uncertain significance (Feb 03, 2022)3156602
17-10306491-C-T not specified Uncertain significance (Sep 12, 2023)2592105
17-10306496-T-C not specified Uncertain significance (May 03, 2023)2542881
17-10306502-G-A not specified Uncertain significance (Aug 12, 2021)2383462
17-10306541-T-G not specified Uncertain significance (Aug 12, 2021)2244118
17-10306547-G-A not specified Uncertain significance (Nov 08, 2022)3156588
17-10306571-C-T not specified Uncertain significance (Jan 19, 2024)2211611
17-10306572-G-A not specified Uncertain significance (Oct 17, 2023)3156579
17-10306599-C-T MYH13-related disorder Likely benign (Apr 06, 2022)3034936
17-10306943-G-A not specified Uncertain significance (Nov 14, 2023)3156574
17-10307001-C-T not specified Uncertain significance (Feb 14, 2023)2464333
17-10307064-T-C not specified Uncertain significance (May 28, 2024)3297400
17-10309279-C-G not specified Uncertain significance (Aug 09, 2021)2380007
17-10309305-C-T not specified Uncertain significance (Aug 15, 2023)2588313
17-10309383-G-T not specified Uncertain significance (May 24, 2024)3297387
17-10309386-C-T MYH13-related disorder • not specified Uncertain significance (Nov 08, 2022)2225042
17-10309392-G-A not specified Uncertain significance (Jan 03, 2022)2212817
17-10309400-T-C not specified Benign (Dec 12, 2023)2672288

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP