ClinVar

NM_005611.4(RBL2):c.100G>T (p.Ala34Ser)

Genes:

LOC130059028:ATAC-STARR-seq lymphoblastoid silent region 7496 [Gene]
RBL2:RB transcriptional corepressor like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.2

Genomic location:

• Chr16: 53434656 (on Assembly GRCh38)
• Chr16: 53468568 (on Assembly GRCh37)

Preferred name:

NM_005611.4(RBL2):c.100G>T (p.Ala34Ser)

HGVS:

• NC_000016.10:g.53434656G>T
• NG_193449.1:g.231G>T
• NM_001323608.2:c.100G>T
• NM_001323609.2:c.100G>T
• NM_001323610.2:c.100G>T
• NM_005611.4:c.100G>TMANE SELECT
• NP_001310537.1:p.Ala34Ser
• NP_001310538.1:p.Ala34Ser
• NP_001310539.1:p.Ala34Ser
• NP_005602.3:p.Ala34Ser
• NC_000016.9:g.53468568G>T
• NM_005611.3:c.100G>T

This HGVS expression did not pass validation

Protein change:

A34S

Molecular consequence:

• NM_001323608.2:c.100G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323609.2:c.100G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323610.2:c.100G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005611.4:c.100G>T - missense variant - [Sequence Ontology: SO:0001583]