ClinVar

NM_001386125.1(OBSCN):c.1089C>T (p.Ala363=)

Genes:

OBSCN-AS1:OBSCN antisense RNA 1 [Gene - HGNC]
OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.13

Genomic location:

• Chr1: 228213541 (on Assembly GRCh38)
• Chr1: 228401242 (on Assembly GRCh37)

Preferred name:

NM_001386125.1(OBSCN):c.1089C>T (p.Ala363=)

HGVS:

• NC_000001.11:g.228213541C>T
• NG_032122.1:g.10382C>T
• NM_001098623.2:c.1089C>T
• NM_001271223.2:c.1089C>T
• NM_001271223.3:c.1089C>T
• NM_001386125.1:c.1089C>TMANE SELECT
• NM_052843.4:c.1089C>T
• NP_001092093.2:p.Ala363=
• NP_001258152.2:p.Ala363=
• NP_001373054.1:p.Ala363=
• NP_443075.3:p.Ala363=
• LRG_412t1:c.1089C>T
• LRG_412t2:c.1089C>T
• LRG_412:g.10382C>T
• LRG_412p1:p.Ala363=
• LRG_412p2:p.Ala363=
• NC_000001.10:g.228401242C>T
• NM_052843.2:c.1089C>T
• NR_073154.1:n.124G>A
• NR_073155.1:n.115G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_073154.1:n.124G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_073155.1:n.115G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001098623.2:c.1089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271223.3:c.1089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386125.1:c.1089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052843.4:c.1089C>T - synonymous variant - [Sequence Ontology: SO:0001819]