ClinVar

NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77174877 (on Assembly GRCh38)
• Chr11: 76885923 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)

HGVS:

• NC_000011.10:g.77174877G>A
• NG_009086.2:g.51632G>A
• NM_000260.4:c.2057G>AMANE SELECT
• NM_001127180.2:c.2057G>A
• NM_001369365.1:c.2024G>A
• NP_000251.3:p.Arg686His
• NP_001120652.1:p.Arg686His
• NP_001356294.1:p.Arg675His
• LRG_1420t1:c.2057G>A
• LRG_1420:g.51632G>A
• LRG_1420p1:p.Arg686His
• NC_000011.9:g.76885923G>A
• NG_009086.1:g.51614G>A
• NM_000260.3:c.2057G>A

This HGVS expression did not pass validation

Protein change:

R675H

Links:

dbSNP: rs781991817

NCBI 1000 Genomes Browser:

rs781991817

Molecular consequence:

• NM_000260.4:c.2057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.2057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.2024G>A - missense variant - [Sequence Ontology: SO:0001583]