ClinVar

NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77174796 (on Assembly GRCh38)
• Chr11: 76885842 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)

HGVS:

• NC_000011.10:g.77174796C>A
• NG_009086.2:g.51551C>A
• NM_000260.4:c.1976C>AMANE SELECT
• NM_001127180.2:c.1976C>A
• NM_001369365.1:c.1943C>A
• NP_000251.3:p.Ser659Ter
• NP_001120652.1:p.Ser659Ter
• NP_001356294.1:p.Ser648Ter
• LRG_1420t1:c.1976C>A
• LRG_1420:g.51551C>A
• LRG_1420p1:p.Ser659Ter
• NC_000011.9:g.76885842C>A
• NG_009086.1:g.51533C>A
• NM_000260.3:c.1976C>A
• p.Ser659X

This HGVS expression did not pass validation

Protein change:

S648*

Links:

dbSNP: rs878853378

NCBI 1000 Genomes Browser:

rs878853378

Molecular consequence:

• NM_000260.4:c.1976C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127180.2:c.1976C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001369365.1:c.1943C>A - nonsense - [Sequence Ontology: SO:0001587]