ClinVar

NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp)

Gene:

MYO6:myosin VI [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.1

Genomic location:

• Chr6: 75914233 (on Assembly GRCh38)
• Chr6: 76623950 (on Assembly GRCh37)

Preferred name:

NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp)

HGVS:

• NC_000006.12:g.75914233C>T
• NG_009934.2:g.170041C>T
• NM_001300899.2:c.3541C>T
• NM_001368136.1:c.3514C>T
• NM_001368137.1:c.3571C>T
• NM_001368138.1:c.3526C>T
• NM_001368865.1:c.3637C>T
• NM_001368866.1:c.3610C>T
• NM_004999.4:c.3610C>TMANE SELECT
• NP_001287828.1:p.Arg1181Trp
• NP_001355065.1:p.Arg1172Trp
• NP_001355066.1:p.Arg1191Trp
• NP_001355067.1:p.Arg1176Trp
• NP_001355794.1:p.Arg1213Trp
• NP_001355795.1:p.Arg1204Trp
• NP_004990.3:p.Arg1204Trp
• LRG_438t1:c.3610C>T
• LRG_438:g.170041C>T
• LRG_438p1:p.Arg1204Trp
• NC_000006.11:g.76623950C>T
• NG_009934.1:g.170042C>T
• NM_004999.3:c.3610C>T
• NR_160538.1:n.3839C>T

This HGVS expression did not pass validation

Protein change:

R1172W

Links:

dbSNP: rs876657911

NCBI 1000 Genomes Browser:

rs876657911

Molecular consequence:

• NM_001300899.2:c.3541C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368136.1:c.3514C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368137.1:c.3571C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368138.1:c.3526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368865.1:c.3637C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368866.1:c.3610C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004999.4:c.3610C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_160538.1:n.3839C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]