ClinVar

NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77192241 (on Assembly GRCh38)
• Chr11: 76903286 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)

HGVS:

• NC_000011.10:g.77192241T>G
• NG_009086.2:g.68996T>G
• NM_000260.4:c.4115T>GMANE SELECT
• NM_001127180.2:c.4115T>G
• NM_001369365.1:c.4082T>G
• NP_000251.3:p.Val1372Gly
• NP_001120652.1:p.Val1372Gly
• NP_001356294.1:p.Val1361Gly
• LRG_1420t1:c.4115T>G
• LRG_1420:g.68996T>G
• LRG_1420p1:p.Val1372Gly
• NC_000011.9:g.76903286T>G
• NC_000011.9:g.76903286T>G
• NG_009086.1:g.68977T>G
• NM_000260.3:c.4115T>G
• NM_000260.4(MYO7A):c.4115T>GMANE SELECT
• p.Val1372Gly

This HGVS expression did not pass validation

Protein change:

V1361G

Links:

dbSNP: rs869312181

NCBI 1000 Genomes Browser:

rs869312181

Molecular consequence:

• NM_000260.4:c.4115T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.4115T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.4082T>G - missense variant - [Sequence Ontology: SO:0001583]