ClinVar

NM_000260.4(MYO7A):c.1818C>T (p.Arg606=)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77172768 (on Assembly GRCh38)
• Chr11: 76883814 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1818C>T (p.Arg606=)

HGVS:

• NC_000011.10:g.77172768C>T
• NG_009086.2:g.49523C>T
• NM_000260.4:c.1818C>TMANE SELECT
• NM_001127180.2:c.1818C>T
• NM_001369365.1:c.1785C>T
• NP_000251.3:p.Arg606=
• NP_001120652.1:p.Arg606=
• NP_001356294.1:p.Arg595=
• LRG_1420t1:c.1818C>T
• LRG_1420:g.49523C>T
• LRG_1420p1:p.Arg606=
• NC_000011.9:g.76883814C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1438441482

NCBI 1000 Genomes Browser:

rs1438441482

Molecular consequence:

• NM_000260.4:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127180.2:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369365.1:c.1785C>T - synonymous variant - [Sequence Ontology: SO:0001819]