ClinVar

NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77172797 (on Assembly GRCh38)
• Chr11: 76883843 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln)

HGVS:

• NC_000011.10:g.77172797G>A
• NG_009086.2:g.49552G>A
• NM_000260.4:c.1847G>AMANE SELECT
• NM_001127180.2:c.1847G>A
• NM_001369365.1:c.1814G>A
• NP_000251.3:p.Arg616Gln
• NP_001120652.1:p.Arg616Gln
• NP_001356294.1:p.Arg605Gln
• LRG_1420t1:c.1847G>A
• LRG_1420:g.49552G>A
• LRG_1420p1:p.Arg616Gln
• NC_000011.9:g.76883843G>A
• NM_000260.3:c.1847G>A

This HGVS expression did not pass validation

Protein change:

R605Q

Links:

dbSNP: rs782410686

NCBI 1000 Genomes Browser:

rs782410686

Molecular consequence:

• NM_000260.4:c.1847G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.1847G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]