ClinVar

NM_005379.4(MYO1A):c.2878-45G>A

Gene:

MYO1A:myosin IA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

• Chr12: 57029304 (on Assembly GRCh38)
• Chr12: 57423088 (on Assembly GRCh37)

Preferred name:

NM_005379.4(MYO1A):c.2878-45G>A

HGVS:

• NC_000012.12:g.57029304C>T
• NG_012104.1:g.25806G>A
• NM_001256041.2:c.2878-45G>A
• NM_005379.4:c.2878-45G>AMANE SELECT
• NC_000012.11:g.57423088C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs202207957

NCBI 1000 Genomes Browser:

rs202207957

Molecular consequence:

• NM_001256041.2:c.2878-45G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005379.4:c.2878-45G>A - intron variant - [Sequence Ontology: SO:0001627]