ClinVar

NM_000260.4(MYO7A):c.1950C>T (p.His650=)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77174770 (on Assembly GRCh38)
• Chr11: 76885816 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1950C>T (p.His650=)

HGVS:

• NC_000011.10:g.77174770C>T
• NG_009086.2:g.51525C>T
• NM_000260.4:c.1950C>TMANE SELECT
• NM_001127180.2:c.1950C>T
• NM_001369365.1:c.1917C>T
• NP_000251.3:p.His650=
• NP_001120652.1:p.His650=
• NP_001356294.1:p.His639=
• LRG_1420t1:c.1950C>T
• LRG_1420:g.51525C>T
• LRG_1420p1:p.His650=
• NC_000011.9:g.76885816C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2135424545

NCBI 1000 Genomes Browser:

rs2135424545

Molecular consequence:

• NM_000260.4:c.1950C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127180.2:c.1950C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369365.1:c.1917C>T - synonymous variant - [Sequence Ontology: SO:0001819]