ClinVar

NM_000258.3(MYL3):c.466G>A (p.Val156Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 46859490 (on Assembly GRCh38)
• Chr3: 46900980 (on Assembly GRCh37)

Preferred name:

NM_000258.3(MYL3):c.466G>A (p.Val156Met)

Other names:

p.V156M:GTG>ATG

HGVS:

• NC_000003.12:g.46859490C>T
• NG_007555.2:g.27680G>A
• NM_000258.3:c.466G>AMANE SELECT
• NP_000249.1:p.Val156Met
• NP_000249.1:p.Val156Met
• LRG_395t1:c.466G>A
• LRG_395:g.27680G>A
• LRG_395p1:p.Val156Met
• NC_000003.11:g.46900980C>T
• NM_000258.2:c.466G>A
• c.466G>A
• p.(Val156Met)

This HGVS expression did not pass validation

Protein change:

V156M

Links:

Leiden Muscular Dystrophy (MYL3): MYL3_00006; dbSNP: rs199474707

NCBI 1000 Genomes Browser:

rs199474707

Molecular consequence:

• NM_000258.3:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]