ClinVar

NM_000685.5(AGTR1):c.419G>A (p.Arg140His)

Gene:

AGTR1:angiotensin II receptor type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q24

Genomic location:

• Chr3: 148741454 (on Assembly GRCh38)
• Chr3: 148459241 (on Assembly GRCh37)

Preferred name:

NM_000685.5(AGTR1):c.419G>A (p.Arg140His)

HGVS:

• NC_000003.12:g.148741454G>A
• NG_008468.1:g.48584G>A
• NM_000685.5:c.419G>AMANE SELECT
• NM_001382736.1:c.419G>A
• NM_001382737.1:c.419G>A
• NM_004835.5:c.419G>A
• NM_009585.4:c.419G>A
• NM_031850.4:c.419G>A
• NM_032049.4:c.419G>A
• NP_000676.1:p.Arg140His
• NP_001369665.1:p.Arg140His
• NP_001369666.1:p.Arg140His
• NP_004826.6:p.Arg140His
• NP_033611.1:p.Arg140His
• NP_114038.5:p.Arg140His
• NP_114438.3:p.Arg140His
• NC_000003.11:g.148459241G>A

This HGVS expression did not pass validation

Protein change:

R140H

Links:

dbSNP: rs570056677

NCBI 1000 Genomes Browser:

rs570056677

Molecular consequence:

• NM_000685.5:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382736.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382737.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004835.5:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_009585.4:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_031850.4:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032049.4:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]