ClinVar

NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77156909 (on Assembly GRCh38)
• Chr11: 76867955 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)

HGVS:

• NC_000011.10:g.77156909G>A
• NG_009086.2:g.33664G>A
• NM_000260.4:c.640G>AMANE SELECT
• NM_001127180.2:c.640G>A
• NM_001369365.1:c.607G>A
• NP_000251.3:p.Gly214Arg
• NP_001120652.1:p.Gly214Arg
• NP_001356294.1:p.Gly203Arg
• LRG_1420t1:c.640G>A
• LRG_1420:g.33664G>A
• LRG_1420p1:p.Gly214Arg
• NC_000011.9:g.76867955G>A
• NG_009086.1:g.33646G>A
• NM_000260.3:c.640G>A
• Q13402:p.Gly214Arg
• c.640G>A

This HGVS expression did not pass validation

Protein change:

G203R

Links:

UniProtKB: Q13402#VAR_009320; dbSNP: rs111033283

NCBI 1000 Genomes Browser:

rs111033283

Molecular consequence:

• NM_000260.4:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.607G>A - missense variant - [Sequence Ontology: SO:0001583]