ClinVar

NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)

Genes:

LOC112441444:Sharpr-MPRA regulatory region 9884 [Gene]
MYL11:myosin light chain 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 30377859 (on Assembly GRCh38)
• Chr16: 30389180 (on Assembly GRCh37)

Preferred name:

NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)

Other names:

MYLPF, CYS157ARG (rs748809300)

HGVS:

• NC_000016.10:g.30377859T>C
• NG_050592.1:g.11926T>C
• NG_050732.1:g.4548T>C
• NG_056816.1:g.252T>C
• NM_001324458.2:c.469T>C
• NM_001324459.2:c.469T>C
• NM_013292.5:c.469T>CMANE SELECT
• NP_001311387.1:p.Cys157Arg
• NP_001311388.1:p.Cys157Arg
• NP_037424.2:p.Cys157Arg
• NC_000016.9:g.30389180T>C
• NM_013292.4:c.469T>C

This HGVS expression did not pass validation

Protein change:

C157R; CYS157ARG

Links:

OMIM: 617378.0002; dbSNP: rs748809300

NCBI 1000 Genomes Browser:

rs748809300

Molecular consequence:

• NM_001324458.2:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324459.2:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_013292.5:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]