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. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	0

Highest pathogenic variant AF is 0.000157687

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP