ClinVar

NM_000260.4(MYO7A):c.894C>T (p.Tyr298=)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77158321 (on Assembly GRCh38)
• Chr11: 76869367 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.894C>T (p.Tyr298=)

HGVS:

• NC_000011.10:g.77158321C>T
• NG_009086.2:g.35076C>T
• NM_000260.4:c.894C>TMANE SELECT
• NM_001127180.2:c.894C>T
• NM_001369365.1:c.861C>T
• NP_000251.3:p.Tyr298=
• NP_001120652.1:p.Tyr298=
• NP_001356294.1:p.Tyr287=
• LRG_1420t1:c.894C>T
• LRG_1420:g.35076C>T
• LRG_1420p1:p.Tyr298=
• NC_000011.9:g.76869367C>T
• NC_000011.9:g.76869367C>T
• NG_009086.1:g.35058C>T
• NM_000260.3:c.894C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs554789699

NCBI 1000 Genomes Browser:

rs554789699

Molecular consequence:

• NM_000260.4:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127180.2:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369365.1:c.861C>T - synonymous variant - [Sequence Ontology: SO:0001819]