ClinVar

NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 68199417 (on Assembly GRCh38)
• Chr10: 69959174 (on Assembly GRCh37)

Preferred name:

NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)

Other names:

p.P1112L:CCT>CTT

HGVS:

• NC_000010.11:g.68199417C>T
• NG_032118.1:g.98301C>T
• NM_001256267.2:c.3335C>T
• NM_001256268.2:c.2453C>T
• NM_032578.4:c.3335C>TMANE SELECT
• NP_001243196.1:p.Pro1112Leu
• NP_001243196.1:p.Pro1112Leu
• NP_001243197.1:p.Pro818Leu
• NP_115967.2:p.Pro1112Leu
• NP_115967.2:p.Pro1112Leu
• LRG_410t1:c.3335C>T
• LRG_410:g.98301C>T
• LRG_410p1:p.Pro1112Leu
• NC_000010.10:g.69959174C>T
• NM_001256267.1:c.3335C>T
• NM_032578.2:c.3335C>T
• NM_032578.3:c.3335C>T
• NR_045662.4:n.2872C>T
• NR_045663.4:n.3409C>T
• Q86TC9:p.Pro1112Leu
• p.(Pro1112Leu)

This HGVS expression did not pass validation

Protein change:

P1112L; PRO1112LEU

Links:

Leiden Muscular Dystrophy (MYPN): MYPN_00003; UniProtKB: Q86TC9#VAR_069659; OMIM: 608517.0002; dbSNP: rs71534278

NCBI 1000 Genomes Browser:

rs71534278

Molecular consequence:

• NM_001256267.2:c.3335C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256268.2:c.2453C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032578.4:c.3335C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_045662.4:n.2872C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045663.4:n.3409C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

unknown functional consequence