ClinVar

NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77208433 (on Assembly GRCh38)
• Chr11: 76919478 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)

HGVS:

• NC_000011.10:g.77208433C>G
• NG_009086.1:g.85169C>G
• NG_009086.2:g.85188C>G
• NM_000260.4:c.5860C>GMANE SELECT
• NM_001127180.2:c.5746C>G
• NM_001369365.1:c.5713C>G
• NP_000251.3:p.Leu1954Val
• NP_001120652.1:p.Leu1916Val
• NP_001356294.1:p.Leu1905Val
• LRG_1420t1:c.5860C>G
• LRG_1420:g.85188C>G
• LRG_1420p1:p.Leu1954Val
• NC_000011.9:g.76919478C>G

This HGVS expression did not pass validation

Protein change:

L1905V

Links:

dbSNP: rs948962

NCBI 1000 Genomes Browser:

rs948962

Molecular consequence:

• NM_000260.4:c.5860C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.5746C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.5713C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1