ClinVar

NM_001379180.1(ESRRB):c.599G>T (p.Arg200Leu)

Gene:

ESRRB:estrogen related receptor beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 76482037 (on Assembly GRCh38)
• Chr14: 76948380 (on Assembly GRCh37)

Preferred name:

NM_001379180.1(ESRRB):c.599G>T (p.Arg200Leu)

HGVS:

• NC_000014.9:g.76482037G>T
• NG_012278.2:g.115691G>T
• NG_012278.3:g.176262G>T
• NM_001379180.1:c.599G>TMANE SELECT
• NM_001411038.1:c.551G>T
• NM_004452.4:c.536G>T
• NP_001366109.1:p.Arg200Leu
• NP_001397967.1:p.Arg184Leu
• NP_004443.3:p.Arg179Leu
• NC_000014.8:g.76948380G>T
• NM_004452.3:c.536G>T

This HGVS expression did not pass validation

Protein change:

R179L

Molecular consequence:

• NM_001379180.1:c.599G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001411038.1:c.551G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004452.4:c.536G>T - missense variant - [Sequence Ontology: SO:0001583]