ClinVar

NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 77206161 (on Assembly GRCh38)
• Chr11: 76917206 (on Assembly GRCh37)

Preferred name:

NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter)

HGVS:

• NC_000011.10:g.77206161C>T
• NG_009086.2:g.82916C>T
• NM_000260.4:c.5701C>TMANE SELECT
• NM_001127180.2:c.5587C>T
• NM_001369365.1:c.5554C>T
• NP_000251.3:p.Gln1901Ter
• NP_001120652.1:p.Gln1863Ter
• NP_001356294.1:p.Gln1852Ter
• LRG_1420t1:c.5701C>T
• LRG_1420:g.82916C>T
• LRG_1420p1:p.Gln1901Ter
• NC_000011.9:g.76917206C>T
• NG_009086.1:g.82897C>T

This HGVS expression did not pass validation

Protein change:

Q1852*

Links:

dbSNP: rs1406392019

NCBI 1000 Genomes Browser:

rs1406392019

Molecular consequence:

• NM_000260.4:c.5701C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127180.2:c.5587C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001369365.1:c.5554C>T - nonsense - [Sequence Ontology: SO:0001587]