ClinVar

NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln)

Gene:

MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23389018 (on Assembly GRCh38)
• Chr14: 23858227 (on Assembly GRCh37)

Preferred name:

NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln)

HGVS:

• NC_000014.9:g.23389018C>T
• NG_023444.1:g.24260G>A
• NM_002471.4:c.4016G>AMANE SELECT
• NP_002462.2:p.Arg1339Gln
• NP_002462.2:p.Arg1339Gln
• LRG_389t1:c.4016G>A
• LRG_389:g.24260G>A
• LRG_389p1:p.Arg1339Gln
• NC_000014.8:g.23858227C>T
• NM_002471.3:c.4016G>A

This HGVS expression did not pass validation

Protein change:

R1339Q

Links:

dbSNP: rs766238876

NCBI 1000 Genomes Browser:

rs766238876

Molecular consequence:

• NM_002471.4:c.4016G>A - missense variant - [Sequence Ontology: SO:0001583]