ClinVar

NM_000257.4(MYH7):c.2868T>A (p.Asp956Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23423961 (on Assembly GRCh38)
• Chr14: 23893170 (on Assembly GRCh37)

Preferred name:

NM_000257.4(MYH7):c.2868T>A (p.Asp956Glu)

HGVS:

• NC_000014.9:g.23423961A>T
• NG_007884.1:g.16701T>A
• NM_000257.4:c.2868T>AMANE SELECT
• NP_000248.2:p.Asp956Glu
• LRG_384t1:c.2868T>A
• LRG_384:g.16701T>A
• NC_000014.8:g.23893170A>T
• NM_000257.2:c.2868T>A

This HGVS expression did not pass validation

Protein change:

D956E

Links:

dbSNP: rs140718120

NCBI 1000 Genomes Browser:

rs140718120

Molecular consequence:

• NM_000257.4:c.2868T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1