ClinVar

NM_001134363.3(RBM20):c.1935G>A (p.Pro645=)

Gene:

RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110812332 (on Assembly GRCh38)
• Chr10: 112572090 (on Assembly GRCh37)

Preferred name:

NM_001134363.3(RBM20):c.1935G>A (p.Pro645=)

HGVS:

• NC_000010.11:g.110812332G>A
• NG_021177.1:g.172936G>A
• NM_001134363.3:c.1935G>AMANE SELECT
• NP_001127835.2:p.Pro645=
• LRG_382t1:c.1935G>A
• LRG_382:g.172936G>A
• NC_000010.10:g.112572090G>A
• NM_001134363.1:c.1935G>A
• NM_001134363.2:c.1935G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs184428735

NCBI 1000 Genomes Browser:

rs184428735

Molecular consequence:

• NM_001134363.3:c.1935G>A - synonymous variant - [Sequence Ontology: SO:0001819]