ClinVar

NM_000260.4(MYO7A):c.285+2T>G

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77147952 (on Assembly GRCh38)
• Chr11: 76858998 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.285+2T>G

HGVS:

• NC_000011.10:g.77147952T>G
• NG_009086.2:g.24707T>G
• NM_000260.4:c.285+2T>GMANE SELECT
• NM_001127180.2:c.285+2T>G
• NM_001369365.1:c.252+2T>G
• LRG_1420t1:c.285+2T>G
• LRG_1420:g.24707T>G
• NC_000011.9:g.76858998T>G
• NM_000260.3:c.285+2T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs782292032

NCBI 1000 Genomes Browser:

rs782292032

Molecular consequence:

• NM_000260.4:c.285+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001127180.2:c.285+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001369365.1:c.252+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]