ClinVar

NM_032578.4(MYPN):c.1839C>T (p.Ser613=)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 68166532 (on Assembly GRCh38)
• Chr10: 69926289 (on Assembly GRCh37)

Preferred name:

NM_032578.4(MYPN):c.1839C>T (p.Ser613=)

HGVS:

• NC_000010.11:g.68166532C>T
• NG_032118.1:g.65416C>T
• NM_001256267.2:c.1839C>T
• NM_001256268.2:c.957C>T
• NM_032578.4:c.1839C>TMANE SELECT
• NP_001243196.1:p.Ser613=
• NP_001243197.1:p.Ser319=
• NP_115967.2:p.Ser613=
• NP_115967.2:p.Ser613=
• LRG_410t1:c.1839C>T
• LRG_410:g.65416C>T
• LRG_410p1:p.Ser613=
• NC_000010.10:g.69926289C>T
• NM_032578.2:c.1839C>T
• NM_032578.3:c.1839C>T
• NR_045662.4:n.1376C>T
• NR_045663.4:n.2052C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs140063470

NCBI 1000 Genomes Browser:

rs140063470

Molecular consequence:

• NR_045662.4:n.1376C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045663.4:n.2052C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001256267.2:c.1839C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256268.2:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032578.4:c.1839C>T - synonymous variant - [Sequence Ontology: SO:0001819]