ClinVar

NM_000257.4(MYH7):c.742A>T (p.Ile248Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23431472 (on Assembly GRCh38)
• Chr14: 23900681 (on Assembly GRCh37)

Preferred name:

NM_000257.4(MYH7):c.742A>T (p.Ile248Phe)

HGVS:

• NC_000014.9:g.23431472T>A
• NG_007884.1:g.9190A>T
• NM_000257.4:c.742A>TMANE SELECT
• NP_000248.2:p.Ile248Phe
• LRG_384t1:c.742A>T
• LRG_384:g.9190A>T
• NC_000014.8:g.23900681T>A
• NM_000257.2:c.742A>T

This HGVS expression did not pass validation

Protein change:

I248F

Links:

dbSNP: rs727503275

NCBI 1000 Genomes Browser:

rs727503275

Molecular consequence:

• NM_000257.4:c.742A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1