MYH8, myosin heavy chain 8, 4626

N. diseases: 39; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434590
rs121434590
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C0265226
Disease:
Hecht syndrome (disorder) 		0.820 GeneticVariation BEFREE To date, the NM_002472.2(MYH8):c.2021G>A (p.Arg674Gln) missense variant in the MYH8 gene is the only known genetic change in individuals with autosomal dominant trismus-pseudocamptodactyly syndrome with unknown molecular mechanism. 28377322 2017
dbSNP: rs121434590
rs121434590
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C0265226
Disease:
Hecht syndrome (disorder) 		0.820 GeneticVariation UNIPROT Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. 20949528 2010
dbSNP: rs121434590
rs121434590
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C0265226
Disease:
Hecht syndrome (disorder) 		0.820 GeneticVariation BEFREE All four TPS families shared the p.R674Q substitution. 17041932 2006
dbSNP: rs121434590
rs121434590
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C0265226
Disease:
Hecht syndrome (disorder) 		0.820 GeneticVariation UNIPROT Mutation of perinatal myosin heavy chain associated with a Carney complex variant. 15282353 2004
dbSNP: rs121434590
rs121434590
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C0265226
Disease:
Hecht syndrome (disorder) 		T 0.820 CausalMutation CLINVAR
dbSNP: rs121434590
rs121434590
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C1837245
Disease:
Carney Complex Variant 		0.800 GeneticVariation UNIPROT Mutation of perinatal myosin heavy chain associated with a Carney complex variant. 15282353 2004
dbSNP: rs121434590
rs121434590
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C1837245
Disease:
Carney Complex Variant 		T 0.800 CausalMutation CLINVAR
dbSNP: rs150008607
rs150008607
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE In this study, we investigated the biologic significance of novel MYH8 tail truncation mutation, R1292X in acute myeloid leukemia (AML) which discovered by whole-exome sequencing and targeted re-sequencing of 209 AML patients. 31430364 2019
dbSNP: rs151091483
rs151091483
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing. 25305228 2015
dbSNP: rs151091483
rs151091483
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C0022548
Disease:
Keloid 		0.010 GeneticVariation BEFREE rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing. 25305228 2015
dbSNP: rs121434590
rs121434590
Entrez Id: 4626;100128560
Gene Symbol: MYH8;MYHAS
MYH8;MYHAS
CUI: C0406810
Disease:
Carney Complex 		0.010 GeneticVariation BEFREE None of the individuals with TPS studied had features of Carney complex, and p.R674Q was not found in 49 independent cases of Carney complex that were screened. 17041932 2006