ClinVar

NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)

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: 15715192 (on Assembly GRCh38)
• Chr16: 15809049 (on Assembly GRCh37)

Preferred name:

NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)

Other names:

p.R1862H:CGC>CAC

HGVS:

• NC_000016.10:g.15715192C>T
• NG_009299.1:g.146839G>A
• NG_021210.1:g.76926C>T
• NM_001040113.2:c.5606G>A
• NM_001040114.2:c.5606G>A
• NM_001143979.2:c.948-8999C>T
• NM_002474.3:c.5585G>AMANE SELECT
• NM_017668.3:c.948-8999C>TMANE SELECT
• NM_022844.3:c.5585G>A
• NP_001035202.1:p.Arg1869His
• NP_001035203.1:p.Arg1869His
• NP_002465.1:p.Arg1862His
• NP_074035.1:p.Arg1862His
• LRG_1401t1:c.5585G>A
• LRG_1401t2:c.5606G>A
• LRG_1401:g.146839G>A
• LRG_1401p1:p.Arg1862His
• LRG_1401p2:p.Arg1869His
• NC_000016.9:g.15809049C>T
• NM_001040113.1:c.5606G>A
• NM_001143979.1:c.948-8999C>T
• NM_002474.2:c.5585G>A

This HGVS expression did not pass validation

Protein change:

R1862H

Links:

dbSNP: rs146228576

NCBI 1000 Genomes Browser:

rs146228576

Molecular consequence:

• NM_001143979.2:c.948-8999C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_017668.3:c.948-8999C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040113.2:c.5606G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040114.2:c.5606G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002474.3:c.5585G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022844.3:c.5585G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

5