ClinVar

NM_004999.4(MYO6):c.3537C>T (p.Ala1179=)

Gene:

MYO6:myosin VI [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.1

Genomic location:

• Chr6: 75914160 (on Assembly GRCh38)
• Chr6: 76623877 (on Assembly GRCh37)

Preferred name:

NM_004999.4(MYO6):c.3537C>T (p.Ala1179=)

HGVS:

• NC_000006.12:g.75914160C>T
• NG_009934.2:g.169968C>T
• NM_001300899.2:c.3468C>T
• NM_001368136.1:c.3441C>T
• NM_001368137.1:c.3498C>T
• NM_001368138.1:c.3453C>T
• NM_001368865.1:c.3564C>T
• NM_001368866.1:c.3537C>T
• NM_004999.4:c.3537C>TMANE SELECT
• NP_001287828.1:p.Ala1156=
• NP_001355065.1:p.Ala1147=
• NP_001355066.1:p.Ala1166=
• NP_001355067.1:p.Ala1151=
• NP_001355794.1:p.Ala1188=
• NP_001355795.1:p.Ala1179=
• NP_004990.3:p.Ala1179=
• LRG_438t1:c.3537C>T
• LRG_438:g.169968C>T
• LRG_438p1:p.Ala1179=
• NC_000006.11:g.76623877C>T
• NG_009934.1:g.169969C>T
• NM_004999.3:c.3537C>T
• NR_160538.1:n.3766C>T
• c.3537C>T
• p.Ala1179Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs371212410

NCBI 1000 Genomes Browser:

rs371212410

Molecular consequence:

• NR_160538.1:n.3766C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001300899.2:c.3468C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368136.1:c.3441C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368137.1:c.3498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368138.1:c.3453C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368865.1:c.3564C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368866.1:c.3537C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004999.4:c.3537C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2