ClinVar

NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77172764 (on Assembly GRCh38)
• Chr11: 76883810 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)

HGVS:

• NC_000011.10:g.77172764A>G
• NG_009086.2:g.49519A>G
• NM_000260.4:c.1814A>GMANE SELECT
• NM_001127180.2:c.1814A>G
• NM_001369365.1:c.1781A>G
• NP_000251.3:p.Lys605Arg
• NP_001120652.1:p.Lys605Arg
• NP_001356294.1:p.Lys594Arg
• LRG_1420t1:c.1814A>G
• LRG_1420:g.49519A>G
• LRG_1420p1:p.Lys605Arg
• NC_000011.9:g.76883810A>G
• NG_009086.1:g.49501A>G
• NM_000260.3:c.1814A>G

This HGVS expression did not pass validation

Protein change:

K594R

Links:

dbSNP: rs968552859

NCBI 1000 Genomes Browser:

rs968552859

Molecular consequence:

• NM_000260.4:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]