ClinVar

NM_032578.4(MYPN):c.2409C>A (p.Ser803Arg)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 68174501 (on Assembly GRCh38)
• Chr10: 69934258 (on Assembly GRCh37)

Preferred name:

NM_032578.4(MYPN):c.2409C>A (p.Ser803Arg)

Other names:

p.Ser803Arg

HGVS:

• NC_000010.11:g.68174501C>A
• NG_032118.1:g.73385C>A
• NM_001256267.2:c.2409C>A
• NM_001256268.2:c.1527C>A
• NM_032578.4:c.2409C>AMANE SELECT
• NP_001243196.1:p.Ser803Arg
• NP_001243197.1:p.Ser509Arg
• NP_115967.2:p.Ser803Arg
• NP_115967.2:p.Ser803Arg
• LRG_410t1:c.2409C>A
• LRG_410:g.73385C>A
• LRG_410p1:p.Ser803Arg
• NC_000010.10:g.69934258C>A
• NM_032578.2:c.2409C>A
• NM_032578.3:c.2409C>A
• NR_045662.4:n.1946C>A
• NR_045663.4:n.2622C>A

This HGVS expression did not pass validation

Protein change:

S509R

Links:

dbSNP: rs3814182

Molecular consequence:

• NM_001256267.2:c.2409C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256268.2:c.1527C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032578.4:c.2409C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_045662.4:n.1946C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045663.4:n.2622C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]