ClinVar

NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77211170 (on Assembly GRCh38)
• Chr11: 76922215 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)

HGVS:

• NC_000011.10:g.77211170C>T
• NG_009086.2:g.87925C>T
• NM_000260.4:c.6070C>TMANE SELECT
• NM_001127180.2:c.5956C>T
• NM_001369365.1:c.5923C>T
• NP_000251.3:p.Arg2024Ter
• NP_000251.3:p.Arg2024Ter
• NP_001120652.1:p.Arg1986Ter
• NP_001356294.1:p.Arg1975Ter
• LRG_1420t1:c.6070C>T
• LRG_1420:g.87925C>T
• LRG_1420p1:p.Arg2024Ter
• NC_000011.9:g.76922215C>T
• NG_009086.1:g.87906C>T
• NM_000260.3:c.6070C>T
• c.6070C>T
• p.Arg2024X

This HGVS expression did not pass validation

Protein change:

R1975*

Links:

dbSNP: rs111033198

NCBI 1000 Genomes Browser:

rs111033198

Molecular consequence:

• NM_000260.4:c.6070C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127180.2:c.5956C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001369365.1:c.5923C>T - nonsense - [Sequence Ontology: SO:0001587]