ClinVar

NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77174804 (on Assembly GRCh38)
• Chr11: 76885850 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu)

HGVS:

• NC_000011.10:g.77174804A>T
• NG_009086.2:g.51559A>T
• NM_000260.4:c.1984A>TMANE SELECT
• NM_001127180.2:c.1984A>T
• NM_001369365.1:c.1951A>T
• NP_000251.3:p.Met662Leu
• NP_001120652.1:p.Met662Leu
• NP_001356294.1:p.Met651Leu
• LRG_1420t1:c.1984A>T
• LRG_1420:g.51559A>T
• LRG_1420p1:p.Met662Leu
• NC_000011.9:g.76885850A>T
• NG_009086.1:g.51541A>T
• NM_000260.3:c.1984A>T

This HGVS expression did not pass validation

Protein change:

M651L

Links:

dbSNP: rs782485961

NCBI 1000 Genomes Browser:

rs782485961

Molecular consequence:

• NM_000260.4:c.1984A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.1984A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.1951A>T - missense variant - [Sequence Ontology: SO:0001583]