ClinVar

NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)

Gene:

MYO6:myosin VI [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.1

Genomic location:

• Chr6: 75914153 (on Assembly GRCh38)
• Chr6: 76623870 (on Assembly GRCh37)

Preferred name:

NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)

HGVS:

• NC_000006.12:g.75914153G>A
• NG_009934.2:g.169961G>A
• NM_001300899.2:c.3461G>A
• NM_001368136.1:c.3434G>A
• NM_001368137.1:c.3491G>A
• NM_001368138.1:c.3446G>A
• NM_001368865.1:c.3557G>A
• NM_001368866.1:c.3530G>A
• NM_004999.4:c.3530G>AMANE SELECT
• NP_001287828.1:p.Arg1154His
• NP_001355065.1:p.Arg1145His
• NP_001355066.1:p.Arg1164His
• NP_001355067.1:p.Arg1149His
• NP_001355794.1:p.Arg1186His
• NP_001355795.1:p.Arg1177His
• NP_004990.3:p.Arg1177His
• LRG_438t1:c.3530G>A
• LRG_438:g.169961G>A
• LRG_438p1:p.Arg1177His
• NC_000006.11:g.76623870G>A
• NG_009934.1:g.169962G>A
• NM_004999.3:c.3530G>A
• NR_160538.1:n.3759G>A

This HGVS expression did not pass validation

Protein change:

R1145H

Links:

dbSNP: rs139664153

NCBI 1000 Genomes Browser:

rs139664153

Molecular consequence:

• NM_001300899.2:c.3461G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368136.1:c.3434G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368137.1:c.3491G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368138.1:c.3446G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368865.1:c.3557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368866.1:c.3530G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004999.4:c.3530G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_160538.1:n.3759G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2