ClinVar

NM_134261.3(RORA):c.230G>T (p.Gly77Val)

Genes:

RORA:RAR related orphan receptor A [Gene - OMIM - HGNC]
RORA-AS1:RORA antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.2

Genomic location:

• Chr15: 60531818 (on Assembly GRCh38)
• Chr15: 60824017 (on Assembly GRCh37)

Preferred name:

NM_134261.3(RORA):c.230G>T (p.Gly77Val)

HGVS:

• NC_000015.10:g.60531818C>A
• NG_029246.1:g.702486G>T
• NM_002943.4:c.305G>T
• NM_134260.3:c.329G>T
• NM_134261.3:c.230G>TMANE SELECT
• NM_134262.3:c.65G>T
• NP_002934.1:p.Gly102Val
• NP_599022.1:p.Gly110Val
• NP_599023.1:p.Gly77Val
• NP_599024.1:p.Gly22Val
• NC_000015.9:g.60824017C>A
• NM_134261.2:c.230G>T

This HGVS expression did not pass validation

Protein change:

G102V

Links:

dbSNP: rs2141452078

NCBI 1000 Genomes Browser:

rs2141452078

Molecular consequence:

• NM_002943.4:c.305G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_134260.3:c.329G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_134261.3:c.230G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_134262.3:c.65G>T - missense variant - [Sequence Ontology: SO:0001583]