ClinVar

NM_032578.4(MYPN):c.3099C>T (p.His1033=)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 68195473 (on Assembly GRCh38)
• Chr10: 69955230 (on Assembly GRCh37)

Preferred name:

NM_032578.4(MYPN):c.3099C>T (p.His1033=)

HGVS:

• NC_000010.11:g.68195473C>T
• NG_032118.1:g.94357C>T
• NM_001256267.2:c.3099C>T
• NM_001256268.2:c.2217C>T
• NM_032578.4:c.3099C>TMANE SELECT
• NP_001243196.1:p.His1033=
• NP_001243197.1:p.His739=
• NP_115967.2:p.His1033=
• LRG_410:g.94357C>T
• NC_000010.10:g.69955230C>T
• NR_045662.4:n.2636C>T
• NR_045663.4:n.3173C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1486921301

NCBI 1000 Genomes Browser:

rs1486921301

Molecular consequence:

• NR_045662.4:n.2636C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045663.4:n.3173C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001256267.2:c.3099C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256268.2:c.2217C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032578.4:c.3099C>T - synonymous variant - [Sequence Ontology: SO:0001819]