ClinVar

NM_000260.4(MYO7A):c.2091G>A (p.Lys697=)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77174911 (on Assembly GRCh38)
• Chr11: 76885957 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.2091G>A (p.Lys697=)

HGVS:

• NC_000011.10:g.77174911G>A
• NG_009086.2:g.51666G>A
• NM_000260.4:c.2091G>AMANE SELECT
• NM_001127180.2:c.2091G>A
• NM_001369365.1:c.2058G>A
• NP_000251.3:p.Lys697=
• NP_001120652.1:p.Lys697=
• NP_001356294.1:p.Lys686=
• LRG_1420t1:c.2091G>A
• LRG_1420:g.51666G>A
• LRG_1420p1:p.Lys697=
• NC_000011.9:g.76885957G>A
• NG_009086.1:g.51648G>A
• NM_000260.3:c.2091G>A
• p.Lys697Lys

This HGVS expression did not pass validation

Links:

dbSNP: rs768972429

NCBI 1000 Genomes Browser:

rs768972429

Molecular consequence:

• NM_000260.4:c.2091G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127180.2:c.2091G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369365.1:c.2058G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1