ClinVar

NM_000260.4(MYO7A):c.1816C>T (p.Arg606Cys)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77172766 (on Assembly GRCh38)
• Chr11: 76883812 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1816C>T (p.Arg606Cys)

HGVS:

• NC_000011.10:g.77172766C>T
• NG_009086.2:g.49521C>T
• NM_000260.4:c.1816C>TMANE SELECT
• NM_001127180.2:c.1816C>T
• NM_001369365.1:c.1783C>T
• NP_000251.3:p.Arg606Cys
• NP_001120652.1:p.Arg606Cys
• NP_001356294.1:p.Arg595Cys
• LRG_1420t1:c.1816C>T
• LRG_1420:g.49521C>T
• LRG_1420p1:p.Arg606Cys
• NC_000011.9:g.76883812C>T
• NC_000011.9:g.76883812C>T
• NG_009086.1:g.49503C>T
• NM_000260.3:c.1816C>T

This HGVS expression did not pass validation

Protein change:

R595C

Links:

dbSNP: rs567139897

NCBI 1000 Genomes Browser:

rs567139897

Molecular consequence:

• NM_000260.4:c.1816C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.1816C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.1783C>T - missense variant - [Sequence Ontology: SO:0001583]