ClinVar

NM_000965.5(RARB):c.1180G>T (p.Glu394Ter)

Gene:

RARB:retinoic acid receptor beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.2

Genomic location:

• Chr3: 25596449 (on Assembly GRCh38)
• Chr3: 25637940 (on Assembly GRCh37)

Preferred name:

NM_000965.5(RARB):c.1180G>T (p.Glu394Ter)

HGVS:

• NC_000003.12:g.25596449G>T
• NG_029013.3:g.772127G>T
• NG_052961.1:g.72924C>A
• NM_000965.5:c.1180G>TMANE SELECT
• NM_001290216.3:c.1201G>T
• NM_001290217.2:c.844G>T
• NM_001290266.2:c.1033G>T
• NM_001290276.2:c.844G>T
• NM_001290277.1:c.1042G>T
• NM_001290300.2:c.1051G>T
• NM_016152.4:c.844G>T
• NP_000956.2:p.Glu394Ter
• NP_001277145.1:p.Glu401Ter
• NP_001277145.1:p.Glu401Ter
• NP_001277146.1:p.Glu282Ter
• NP_001277195.1:p.Glu345Ter
• NP_001277205.1:p.Glu282Ter
• NP_001277206.1:p.Glu348Ter
• NP_001277229.1:p.Glu351Ter
• NP_057236.1:p.Glu282Ter
• NC_000003.11:g.25637940G>T
• NM_001290216.2:c.1201G>T
• NR_110892.2:n.1488G>T
• NR_110893.2:n.1444G>T

This HGVS expression did not pass validation

Protein change:

E282*

Links:

dbSNP: rs1575553528

NCBI 1000 Genomes Browser:

rs1575553528

Molecular consequence:

• NR_110892.2:n.1488G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110893.2:n.1444G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000965.5:c.1180G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001290216.3:c.1201G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001290217.2:c.844G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001290266.2:c.1033G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001290276.2:c.844G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001290277.1:c.1042G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001290300.2:c.1051G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_016152.4:c.844G>T - nonsense - [Sequence Ontology: SO:0001587]