ClinVar

NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77142710 (on Assembly GRCh38)
• Chr11: 76853756 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)

HGVS:

• NC_000011.10:g.77142710G>T
• NG_009086.2:g.19465G>T
• NM_000260.4:c.20G>TMANE SELECT
• NM_001127180.2:c.20G>T
• NM_001369365.1:c.-14G>T
• NP_000251.3:p.Gly7Val
• NP_001120652.1:p.Gly7Val
• LRG_1420t1:c.20G>T
• LRG_1420:g.19465G>T
• LRG_1420p1:p.Gly7Val
• NC_000011.9:g.76853756G>T
• NG_009086.1:g.19447G>T
• NM_000260.3:c.20G>T
• NM_001127180.1:c.20G>T

This HGVS expression did not pass validation

Protein change:

G7V

Links:

dbSNP: rs781989117

NCBI 1000 Genomes Browser:

rs781989117

Molecular consequence:

• NM_001369365.1:c.-14G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000260.4:c.20G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.20G>T - missense variant - [Sequence Ontology: SO:0001583]