ClinVar

NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)

Genes:

MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

• Chr16: 15717205 (on Assembly GRCh38)
• Chr16: 15811062 (on Assembly GRCh37)

Preferred name:

NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)

Other names:

p.K1813K:AAG>AAA

HGVS:

• NC_000016.10:g.15717205C>T
• NG_009299.1:g.144826G>A
• NG_021210.1:g.78939C>T
• NM_001040113.2:c.5460G>A
• NM_001040114.2:c.5460G>A
• NM_001143979.2:c.948-6986C>T
• NM_002474.3:c.5439G>AMANE SELECT
• NM_017668.3:c.948-6986C>TMANE SELECT
• NM_022844.3:c.5439G>A
• NP_001035202.1:p.Lys1820=
• NP_001035203.1:p.Lys1820=
• NP_002465.1:p.Lys1813=
• NP_074035.1:p.Lys1813=
• LRG_1401t1:c.5439G>A
• LRG_1401t2:c.5460G>A
• LRG_1401:g.144826G>A
• LRG_1401p1:p.Lys1813=
• LRG_1401p2:p.Lys1820=
• NC_000016.9:g.15811062C>T
• NM_001040113.1:c.5460G>A
• NM_001143979.1:c.948-6986C>T
• NM_002474.2:c.5439G>A
• p.Lys1813Lys
• p.Lys1820Lys

This HGVS expression did not pass validation

Links:

dbSNP: rs1050162

NCBI 1000 Genomes Browser:

rs1050162

Molecular consequence:

• NM_001143979.2:c.948-6986C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_017668.3:c.948-6986C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040113.2:c.5460G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001040114.2:c.5460G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002474.3:c.5439G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022844.3:c.5439G>A - synonymous variant - [Sequence Ontology: SO:0001819]