ClinVar

NM_000257.4(MYH7):c.531C>T (p.Thr177=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23431869 (on Assembly GRCh38)
• Chr14: 23901078 (on Assembly GRCh37)

Preferred name:

NM_000257.4(MYH7):c.531C>T (p.Thr177=)

HGVS:

• NC_000014.9:g.23431869G>A
• NG_007884.1:g.8793C>T
• NM_000257.4:c.531C>TMANE SELECT
• NP_000248.2:p.Thr177=
• LRG_384t1:c.531C>T
• LRG_384:g.8793C>T
• NC_000014.8:g.23901078G>A
• NM_000257.2:c.531C>T
• NM_000257.3:c.531C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200035152

NCBI 1000 Genomes Browser:

rs200035152

Molecular consequence:

• NM_000257.4:c.531C>T - synonymous variant - [Sequence Ontology: SO:0001819]