ClinVar

NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77189348 (on Assembly GRCh38)
• Chr11: 76900393 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)

HGVS:

• NC_000011.10:g.77189348G>A
• NG_009086.2:g.66103G>A
• NM_000260.4:c.3508G>AMANE SELECT
• NM_001127180.2:c.3508G>A
• NM_001369365.1:c.3475G>A
• NP_000251.3:p.Glu1170Lys
• NP_001120652.1:p.Glu1170Lys
• NP_001356294.1:p.Glu1159Lys
• LRG_1420t1:c.3508G>A
• LRG_1420:g.66103G>A
• LRG_1420p1:p.Glu1170Lys
• NC_000011.9:g.76900393G>A
• NG_009086.1:g.66084G>A
• NM_000260.3:c.3508G>A
• Q13402:p.Glu1170Lys
• c.3508G>A

This HGVS expression did not pass validation

Protein change:

E1159K

Links:

UniProtKB: Q13402#VAR_009336; dbSNP: rs111033214

NCBI 1000 Genomes Browser:

rs111033214

Molecular consequence:

• NM_000260.4:c.3508G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.3508G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.3475G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1