ClinVar

NM_001382347.1(MYO5A):c.5619C>T (p.Gly1873=)

Gene:

MYO5A:myosin VA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.2

Genomic location:

• Chr15: 52313720 (on Assembly GRCh38)
• Chr15: 52605917 (on Assembly GRCh37)

Preferred name:

NM_001382347.1(MYO5A):c.5619C>T (p.Gly1873=)

HGVS:

• NC_000015.10:g.52313720G>A
• NG_009887.1:g.220331C>T
• NM_000259.3:c.5544C>T
• NM_001142495.2:c.5463C>T
• NM_001382347.1:c.5619C>TMANE SELECT
• NM_001382348.1:c.5691C>T
• NM_001382349.1:c.5616C>T
• NP_000250.3:p.Gly1848=
• NP_001135967.2:p.Gly1821=
• NP_001369276.1:p.Gly1873=
• NP_001369277.1:p.Gly1897=
• NP_001369278.1:p.Gly1872=
• LRG_86t1:c.5544C>T
• LRG_86:g.220331C>T
• LRG_86p1:p.Gly1848=
• NC_000015.9:g.52605917G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs797045731

NCBI 1000 Genomes Browser:

rs797045731

Molecular consequence:

• NM_000259.3:c.5544C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142495.2:c.5463C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382347.1:c.5619C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382348.1:c.5691C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382349.1:c.5616C>T - synonymous variant - [Sequence Ontology: SO:0001819]