ClinVar

NM_000260.4(MYO7A):c.1798-5C>T

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77172743 (on Assembly GRCh38)
• Chr11: 76883789 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.1798-5C>T

HGVS:

• NC_000011.10:g.77172743C>T
• NG_009086.2:g.49498C>T
• NM_000260.4:c.1798-5C>TMANE SELECT
• NM_001127180.2:c.1798-5C>T
• NM_001369365.1:c.1765-5C>T
• LRG_1420t1:c.1798-5C>T
• LRG_1420:g.49498C>T
• NC_000011.9:g.76883789C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2135406096

NCBI 1000 Genomes Browser:

rs2135406096

Molecular consequence:

• NM_000260.4:c.1798-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127180.2:c.1798-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369365.1:c.1765-5C>T - intron variant - [Sequence Ontology: SO:0001627]