ClinVar

NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 68199563 (on Assembly GRCh38)
• Chr10: 69959320 (on Assembly GRCh37)

Preferred name:

NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)

Other names:

p.L1161I:CTC>ATC

HGVS:

• NC_000010.11:g.68199563C>A
• NG_032118.1:g.98447C>A
• NM_001256267.2:c.3481C>A
• NM_001256268.2:c.2599C>A
• NM_032578.4:c.3481C>AMANE SELECT
• NP_001243196.1:p.Leu1161Ile
• NP_001243196.1:p.Leu1161Ile
• NP_001243197.1:p.Leu867Ile
• NP_115967.2:p.Leu1161Ile
• NP_115967.2:p.Leu1161Ile
• LRG_410t1:c.3481C>A
• LRG_410:g.98447C>A
• LRG_410p1:p.Leu1161Ile
• NC_000010.10:g.69959320C>A
• NM_001256267.1:c.3481C>A
• NM_032578.2:c.3481C>A
• NM_032578.3:c.3481C>A
• NR_045662.4:n.3018C>A
• NR_045663.4:n.3555C>A
• Q86TC9:p.Leu1161Ile
• p.(Leu1161Ile)

This HGVS expression did not pass validation

Protein change:

L1161I

Links:

Leiden Muscular Dystrophy (MYPN): MYPN_00031; UniProtKB: Q86TC9#VAR_069660; dbSNP: rs138313730

NCBI 1000 Genomes Browser:

rs138313730

Molecular consequence:

• NM_001256267.2:c.3481C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256268.2:c.2599C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032578.4:c.3481C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_045662.4:n.3018C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045663.4:n.3555C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

probably has functional consequence

Observations:

2