ClinVar

NM_032578.4(MYPN):c.1134C>T (p.Ile378=)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

• Chr10: 68148356 (on Assembly GRCh38)
• Chr10: 69908113 (on Assembly GRCh37)

Preferred name:

NM_032578.4(MYPN):c.1134C>T (p.Ile378=)

Other names:

p.I378I:ATC>ATT

HGVS:

• NC_000010.11:g.68148356C>T
• NG_032118.1:g.47240C>T
• NM_001256267.2:c.1134C>T
• NM_001256268.2:c.252C>T
• NM_032578.4:c.1134C>TMANE SELECT
• NP_001243196.1:p.Ile378=
• NP_001243196.1:p.Ile378=
• NP_001243197.1:p.Ile84=
• NP_001243197.1:p.Ile84=
• NP_115967.2:p.Ile378=
• NP_115967.2:p.Ile378=
• LRG_410t1:c.1134C>T
• LRG_410:g.47240C>T
• LRG_410p1:p.Ile378=
• NC_000010.10:g.69908113C>T
• NM_001256267.1:c.1134C>T
• NM_001256268.1:c.252C>T
• NM_032578.2:c.1134C>T
• NM_032578.3:c.1134C>T
• NR_045662.4:n.671C>T
• NR_045663.4:n.1371C>T
• p.Ile378Ile

This HGVS expression did not pass validation

Links:

dbSNP: rs145701607

NCBI 1000 Genomes Browser:

rs145701607

Molecular consequence:

• NR_045662.4:n.671C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045663.4:n.1371C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001256267.2:c.1134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256268.2:c.252C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032578.4:c.1134C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

14