ClinVar

NM_001122659.3(EDNRB):c.-26G>A

Gene:

EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q22.3

Genomic location:

• Chr13: 77918599 (on Assembly GRCh38)
• Chr13: 78492734 (on Assembly GRCh37)

Preferred name:

NM_001122659.3(EDNRB):c.-26G>A

HGVS:

• NC_000013.11:g.77918599C>T
• NG_011630.3:g.61125G>A
• NM_000115.5:c.-26G>A
• NM_001122659.3:c.-26G>AMANE SELECT
• NM_001201397.2:c.245G>A
• NM_003991.4:c.-26G>A
• NP_001188326.1:p.Arg82Gln
• NP_001188326.1:p.Arg82Gln
• NC_000013.10:g.78492734C>T
• NM_000115.3:c.-26G>A
• NM_001201397.1:c.245G>A

This HGVS expression did not pass validation

Protein change:

R82Q

Links:

dbSNP: rs2070591

NCBI 1000 Genomes Browser:

rs2070591

Molecular consequence:

• NM_000115.5:c.-26G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001122659.3:c.-26G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_003991.4:c.-26G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001201397.2:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]