ClinVar

NM_005379.4(MYO1A):c.2485-45C>A

Gene:

MYO1A:myosin IA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

• Chr12: 57030361 (on Assembly GRCh38)
• Chr12: 57424145 (on Assembly GRCh37)

Preferred name:

NM_005379.4(MYO1A):c.2485-45C>A

HGVS:

• NC_000012.12:g.57030361G>T
• NG_012104.1:g.24749C>A
• NM_001256041.2:c.2485-45C>A
• NM_005379.4:c.2485-45C>AMANE SELECT
• NC_000012.11:g.57424145G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs142830604

NCBI 1000 Genomes Browser:

rs142830604

Molecular consequence:

• NM_001256041.2:c.2485-45C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005379.4:c.2485-45C>A - intron variant - [Sequence Ontology: SO:0001627]