ClinVar

NM_001386125.1(OBSCN):c.8582C>T (p.Thr2861Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.13

Genomic location:

• Chr1: 228279343 (on Assembly GRCh38)
• Chr1: 228467044 (on Assembly GRCh37)

Preferred name:

NM_001386125.1(OBSCN):c.8582C>T (p.Thr2861Met)

HGVS:

• NC_000001.11:g.228279343C>T
• NG_032122.1:g.76184C>T
• NM_001098623.2:c.7295C>T
• NM_001271223.3:c.8582C>T
• NM_001386125.1:c.8582C>TMANE SELECT
• NM_052843.4:c.7295C>T
• NP_001092093.2:p.Thr2432Met
• NP_001258152.2:p.Thr2861Met
• NP_001373054.1:p.Thr2861Met
• NP_443075.3:p.Thr2432Met
• LRG_412t1:c.8582C>T
• LRG_412t2:c.8582C>T
• LRG_412:g.76184C>T
• LRG_412p1:p.Thr2861Met
• LRG_412p2:p.Thr2861Met
• NC_000001.10:g.228467044C>T
• NM_052843.2:c.7295C>T

This HGVS expression did not pass validation

Protein change:

T2432M

Links:

dbSNP: rs747262678

NCBI 1000 Genomes Browser:

rs747262678

Molecular consequence:

• NM_001098623.2:c.7295C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271223.3:c.8582C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386125.1:c.8582C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_052843.4:c.7295C>T - missense variant - [Sequence Ontology: SO:0001583]