ClinVar

NM_181674.3(PPP2R2B):c.75-562AGC[17]

Genes:

LOC108660405:protein phosphatase 2 regulatory subunit Bbeta repeat instability region [Gene]
PPP2R2B:protein phosphatase 2 regulatory subunit Bbeta [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

5q32

Genomic location:

• Chr5: 146878727 - 146878728 (on Assembly GRCh38)
• Chr5: 146258290 - 146258291 (on Assembly GRCh37)

Preferred name:

NM_181674.3(PPP2R2B):c.75-562AGC[17]

HGVS:

• NC_000005.10:g.146878730TGC[17]
• NG_011570.3:g.207763AGC[17]
• NG_051539.1:g.103TGC[17]
• NM_001271899.1:c.89-177615AGC[17]
• NM_001271900.2:c.51-562AGC[17]
• NM_181674.3:c.75-562AGC[17]
• NM_181676.3:c.79+176908AGC[17]
• NM_181677.2:c.10+156412AGC[17]
• NM_181678.2:c.-48-22174AGC[17]
• NC_000005.9:g.146258293TGC[17]
• NG_011570.2:g.207714AGC[17]

This HGVS expression did not pass validation

Links:

dbSNP: rs10591869

NCBI 1000 Genomes Browser:

rs10591869

Molecular consequence:

• NM_001271899.1:c.89-177615AGC[17] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001271900.2:c.51-562AGC[17] - intron variant - [Sequence Ontology: SO:0001627]
• NM_181674.3:c.75-562AGC[17] - intron variant - [Sequence Ontology: SO:0001627]
• NM_181676.3:c.79+176908AGC[17] - intron variant - [Sequence Ontology: SO:0001627]
• NM_181677.2:c.10+156412AGC[17] - intron variant - [Sequence Ontology: SO:0001627]
• NM_181678.2:c.-48-22174AGC[17] - intron variant - [Sequence Ontology: SO:0001627]