ClinVar

NM_000260.4(MYO7A):c.1554+8G>A

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77162338 (on Assembly GRCh38)
• Chr11: 76873384 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1554+8G>A

HGVS:

• NC_000011.10:g.77162338G>A
• NG_009086.2:g.39093G>A
• NM_000260.4:c.1554+8G>AMANE SELECT
• NM_001127180.2:c.1554+8G>A
• NM_001369365.1:c.1521+8G>A
• LRG_1420t1:c.1554+8G>A
• LRG_1420:g.39093G>A
• NC_000011.9:g.76873384G>A
• NG_009086.1:g.39075G>A
• NM_000260.3:c.1554+8G>A
• c.1554+8G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs111033227

NCBI 1000 Genomes Browser:

rs111033227

Molecular consequence:

• NM_000260.4:c.1554+8G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127180.2:c.1554+8G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369365.1:c.1521+8G>A - intron variant - [Sequence Ontology: SO:0001627]