ClinVar

NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77156958 (on Assembly GRCh38)
• Chr11: 76868004 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)

HGVS:

• NC_000011.10:g.77156958C>T
• NG_009086.2:g.33713C>T
• NM_000260.4:c.689C>TMANE SELECT
• NM_001127180.2:c.689C>T
• NM_001369365.1:c.656C>T
• NP_000251.3:p.Ala230Val
• NP_001120652.1:p.Ala230Val
• NP_001356294.1:p.Ala219Val
• LRG_1420t1:c.689C>T
• LRG_1420:g.33713C>T
• LRG_1420p1:p.Ala230Val
• NC_000011.9:g.76868004C>T
• NG_009086.1:g.33695C>T
• NM_000260.3:c.689C>T

This HGVS expression did not pass validation

Protein change:

A219V

Links:

dbSNP: rs797044512

NCBI 1000 Genomes Browser:

rs797044512

Molecular consequence:

• NM_000260.4:c.689C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.689C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.656C>T - missense variant - [Sequence Ontology: SO:0001583]