ClinVar

NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77180449 (on Assembly GRCh38)
• Chr11: 76891495 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu)

HGVS:

• NC_000011.10:g.77180449A>G
• NG_009086.2:g.57204A>G
• NM_000260.4:c.2662A>GMANE SELECT
• NM_001127180.2:c.2662A>G
• NM_001369365.1:c.2629A>G
• NP_000251.3:p.Lys888Glu
• NP_001120652.1:p.Lys888Glu
• NP_001356294.1:p.Lys877Glu
• LRG_1420t1:c.2662A>G
• LRG_1420:g.57204A>G
• LRG_1420p1:p.Lys888Glu
• NC_000011.9:g.76891495A>G
• NG_009086.1:g.57186A>G
• NM_000260.3:c.2662A>G

This HGVS expression did not pass validation

Protein change:

K877E

Links:

dbSNP: rs782227741

NCBI 1000 Genomes Browser:

rs782227741

Molecular consequence:

• NM_000260.4:c.2662A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.2662A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.2629A>G - missense variant - [Sequence Ontology: SO:0001583]