ClinVar

NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)

Gene:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23431775 (on Assembly GRCh38)
• Chr14: 23900984 (on Assembly GRCh37)

Preferred name:

NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)

HGVS:

• NC_000014.9:g.23431775G>T
• NG_007884.1:g.8887C>A
• NM_000257.4:c.625C>AMANE SELECT
• NP_000248.2:p.Gln209Lys
• LRG_384t1:c.625C>A
• LRG_384:g.8887C>A
• NC_000014.8:g.23900984G>T
• NM_000257.2:c.625C>A

This HGVS expression did not pass validation

Protein change:

Q209K

Links:

dbSNP: rs878853840

NCBI 1000 Genomes Browser:

rs878853840

Molecular consequence:

• NM_000257.4:c.625C>A - missense variant - [Sequence Ontology: SO:0001583]