ClinVar

NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His)

Gene:

MYH14:myosin heavy chain 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50280092 (on Assembly GRCh38)
• Chr19: 50783349 (on Assembly GRCh37)

Preferred name:

NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His)

HGVS:

• NC_000019.10:g.50280092G>A
• NG_011645.1:g.81465G>A
• NM_001077186.2:c.3989G>A
• NM_001145809.2:c.4088G>AMANE SELECT
• NM_024729.3:c.3965G>A
• NM_024729.4:c.3965G>A
• NP_001070654.1:p.Arg1330His
• NP_001139281.1:p.Arg1363His
• NP_079005.3:p.Arg1322His
• NC_000019.9:g.50783349G>A
• NM_001145809.1:c.4088G>A
• NM_001145809.2:c.4088G>A

This HGVS expression did not pass validation

Protein change:

R1322H

Links:

dbSNP: rs727504915

NCBI 1000 Genomes Browser:

rs727504915

Molecular consequence:

• NM_001077186.2:c.3989G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145809.2:c.4088G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024729.4:c.3965G>A - missense variant - [Sequence Ontology: SO:0001583]