ClinVar

NM_032578.4(MYPN):c.1790G>A (p.Arg597His)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 68166483 (on Assembly GRCh38)
• Chr10: 69926240 (on Assembly GRCh37)

Preferred name:

NM_032578.4(MYPN):c.1790G>A (p.Arg597His)

Other names:

p.R597H:CGT>CAT

HGVS:

• NC_000010.11:g.68166483G>A
• NG_032118.1:g.65367G>A
• NM_001256267.2:c.1790G>A
• NM_001256268.2:c.908G>A
• NM_032578.4:c.1790G>AMANE SELECT
• NP_001243196.1:p.Arg597His
• NP_001243196.1:p.Arg597His
• NP_001243197.1:p.Arg303His
• NP_115967.2:p.Arg597His
• NP_115967.2:p.Arg597His
• LRG_410t1:c.1790G>A
• LRG_410:g.65367G>A
• LRG_410p1:p.Arg597His
• NC_000010.10:g.69926240G>A
• NM_001256267.1:c.1790G>A
• NM_032578.2:c.1790G>A
• NM_032578.3:c.1790G>A
• NR_045662.4:n.1327G>A
• NR_045663.4:n.2003G>A

This HGVS expression did not pass validation

Protein change:

R303H

Links:

dbSNP: rs150911078

NCBI 1000 Genomes Browser:

rs150911078

Molecular consequence:

• NM_001256267.2:c.1790G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256268.2:c.908G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032578.4:c.1790G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_045662.4:n.1327G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045663.4:n.2003G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2