ClinVar

NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln)

Gene:

MYH10:myosin heavy chain 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8478363 (on Assembly GRCh38)
• Chr17: 8381681 (on Assembly GRCh37)

Preferred name:

NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln)

HGVS:

• NC_000017.11:g.8478363C>T
• NG_042305.2:g.157399G>A
• NM_001256012.3:c.5681G>AMANE SELECT
• NM_001256095.2:c.5615G>A
• NM_001375266.1:c.5618G>A
• NM_005964.5:c.5588G>A
• NP_001242941.1:p.Arg1894Gln
• NP_001243024.1:p.Arg1872Gln
• NP_001362195.1:p.Arg1873Gln
• NP_005955.3:p.Arg1863Gln
• NC_000017.10:g.8381681C>T
• NG_042305.1:g.157399G>A
• NM_001256012.1:c.5681G>A
• NM_001256095.1:c.5615G>A

This HGVS expression did not pass validation

Protein change:

R1863Q

Links:

dbSNP: rs1038557470

NCBI 1000 Genomes Browser:

rs1038557470

Molecular consequence:

• NM_001256012.3:c.5681G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256095.2:c.5615G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375266.1:c.5618G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005964.5:c.5588G>A - missense variant - [Sequence Ontology: SO:0001583]