ClinVar

NM_000260.4(MYO7A):c.1554+19C>T

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77162349 (on Assembly GRCh38)
• Chr11: 76873395 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1554+19C>T

HGVS:

• NC_000011.10:g.77162349C>T
• NG_009086.2:g.39104C>T
• NM_000260.4:c.1554+19C>TMANE SELECT
• NM_001127180.2:c.1554+19C>T
• NM_001369365.1:c.1521+19C>T
• LRG_1420t1:c.1554+19C>T
• LRG_1420:g.39104C>T
• NC_000011.9:g.76873395C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs780042407

NCBI 1000 Genomes Browser:

rs780042407

Molecular consequence:

• NM_000260.4:c.1554+19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127180.2:c.1554+19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369365.1:c.1521+19C>T - intron variant - [Sequence Ontology: SO:0001627]