ClinVar

NM_000260.4(MYO7A):c.3656G>T (p.Gly1219Val)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77190045 (on Assembly GRCh38)
• Chr11: 76901090 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.3656G>T (p.Gly1219Val)

HGVS:

• NC_000011.10:g.77190045G>T
• NG_009086.2:g.66800G>T
• NM_000260.4:c.3656G>TMANE SELECT
• NM_001127180.2:c.3656G>T
• NM_001369365.1:c.3623G>T
• NP_000251.3:p.Gly1219Val
• NP_001120652.1:p.Gly1219Val
• NP_001356294.1:p.Gly1208Val
• LRG_1420t1:c.3656G>T
• LRG_1420:g.66800G>T
• LRG_1420p1:p.Gly1219Val
• NC_000011.9:g.76901090G>T
• NG_009086.1:g.66781G>T
• NM_000260.3:c.3656G>T

This HGVS expression did not pass validation

Protein change:

G1208V

Links:

dbSNP: rs1555090958

NCBI 1000 Genomes Browser:

rs1555090958

Molecular consequence:

• NM_000260.4:c.3656G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127180.2:c.3656G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369365.1:c.3623G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1