ClinVar

NM_000260.4(MYO7A):c.2040G>A (p.Glu680=)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77174860 (on Assembly GRCh38)
• Chr11: 76885906 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.2040G>A (p.Glu680=)

HGVS:

• NC_000011.10:g.77174860G>A
• NG_009086.2:g.51615G>A
• NM_000260.4:c.2040G>AMANE SELECT
• NM_001127180.2:c.2040G>A
• NM_001369365.1:c.2007G>A
• NP_000251.3:p.Glu680=
• NP_001120652.1:p.Glu680=
• NP_001356294.1:p.Glu669=
• LRG_1420t1:c.2040G>A
• LRG_1420:g.51615G>A
• LRG_1420p1:p.Glu680=
• NC_000011.9:g.76885906G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1555079061

NCBI 1000 Genomes Browser:

rs1555079061

Molecular consequence:

• NM_000260.4:c.2040G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127180.2:c.2040G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369365.1:c.2007G>A - synonymous variant - [Sequence Ontology: SO:0001819]