ClinVar

NM_134261.3(RORA):c.251A>C (p.His84Pro)

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: 60531797 (on Assembly GRCh38)
• Chr15: 60823996 (on Assembly GRCh37)

Preferred name:

NM_134261.3(RORA):c.251A>C (p.His84Pro)

HGVS:

• NC_000015.10:g.60531797T>G
• NG_029246.1:g.702507A>C
• NG_029246.2:g.702505A>C
• NM_002943.4:c.326A>C
• NM_134260.3:c.350A>C
• NM_134261.3:c.251A>CMANE SELECT
• NM_134262.3:c.86A>C
• NP_002934.1:p.His109Pro
• NP_599022.1:p.His117Pro
• NP_599023.1:p.His84Pro
• NP_599024.1:p.His29Pro
• NC_000015.9:g.60823996T>G
• NM_134261.2:c.251A>C

This HGVS expression did not pass validation

Protein change:

H109P

Molecular consequence:

• NM_002943.4:c.326A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_134260.3:c.350A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_134261.3:c.251A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_134262.3:c.86A>C - missense variant - [Sequence Ontology: SO:0001583]