ClinVar

NM_005611.4(RBL2):c.847C>T (p.His283Tyr)

Gene:

RBL2:RB transcriptional corepressor like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.2

Genomic location:

• Chr16: 53453532 (on Assembly GRCh38)
• Chr16: 53487444 (on Assembly GRCh37)

Preferred name:

NM_005611.4(RBL2):c.847C>T (p.His283Tyr)

HGVS:

• NC_000016.10:g.53453532C>T
• NM_001323608.2:c.847C>T
• NM_001323609.2:c.847C>T
• NM_001323610.2:c.847C>T
• NM_001323611.1:c.625C>T
• NM_005611.4:c.847C>TMANE SELECT
• NP_001310537.1:p.His283Tyr
• NP_001310538.1:p.His283Tyr
• NP_001310539.1:p.His283Tyr
• NP_001310540.1:p.His209Tyr
• NP_005602.3:p.His283Tyr
• NC_000016.9:g.53487444C>T
• NM_005611.3:c.847C>T

This HGVS expression did not pass validation

Protein change:

H209Y

Molecular consequence:

• NM_001323608.2:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323609.2:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323610.2:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323611.1:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005611.4:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]