ClinVar

NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77142709 (on Assembly GRCh38)
• Chr11: 76853755 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)

HGVS:

• NC_000011.10:g.77142709G>A
• NG_009086.2:g.19464G>A
• NM_000260.4:c.19G>AMANE SELECT
• NM_001127180.2:c.19G>A
• NM_001369365.1:c.-15G>A
• NP_000251.3:p.Gly7Arg
• NP_001120652.1:p.Gly7Arg
• LRG_1420t1:c.19G>A
• LRG_1420:g.19464G>A
• LRG_1420p1:p.Gly7Arg
• NC_000011.9:g.76853755G>A
• NG_009086.1:g.19446G>A
• NM_000260.3:c.19G>A
• NM_000260.4(MYO7A):c.19G>AMANE SELECT
• p.Gly7Arg

This HGVS expression did not pass validation

Protein change:

G7R

Links:

dbSNP: rs372509310

NCBI 1000 Genomes Browser:

rs372509310

Molecular consequence:

• NM_001369365.1:c.-15G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000260.4:c.19G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.19G>A - missense variant - [Sequence Ontology: SO:0001583]