ClinVar

NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)

Gene:

MYL3:myosin light chain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 46860796 (on Assembly GRCh38)
• Chr3: 46902286 (on Assembly GRCh37)

Preferred name:

NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)

HGVS:

• NC_000003.12:g.46860796G>A
• NG_007555.2:g.26374C>T
• NM_000258.3:c.187C>TMANE SELECT
• NP_000249.1:p.Arg63Cys
• NP_000249.1:p.Arg63Cys
• LRG_395t1:c.187C>T
• LRG_395:g.26374C>T
• LRG_395p1:p.Arg63Cys
• NC_000003.11:g.46902286G>A
• NM_000258.2:c.187C>T

This HGVS expression did not pass validation

Protein change:

R63C

Links:

dbSNP: rs565312070

NCBI 1000 Genomes Browser:

rs565312070

Molecular consequence:

• NM_000258.3:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1