ClinVar

NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77158285 (on Assembly GRCh38)
• Chr11: 76869331 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter)

HGVS:

• NC_000011.10:g.77158285C>A
• NG_009086.2:g.35040C>A
• NM_000260.4:c.858C>AMANE SELECT
• NM_001127180.2:c.858C>A
• NM_001369365.1:c.825C>A
• NP_000251.3:p.Cys286Ter
• NP_001120652.1:p.Cys286Ter
• NP_001356294.1:p.Cys275Ter
• LRG_1420t1:c.858C>A
• LRG_1420:g.35040C>A
• LRG_1420p1:p.Cys286Ter
• NC_000011.9:g.76869331C>A
• NG_009086.1:g.35022C>A

This HGVS expression did not pass validation

Protein change:

C275*

Links:

dbSNP: rs1952682554

NCBI 1000 Genomes Browser:

rs1952682554

Molecular consequence:

• NM_000260.4:c.858C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127180.2:c.858C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001369365.1:c.825C>A - nonsense - [Sequence Ontology: SO:0001587]