ClinVar

NM_001162498.3(LPAR6):c.145C>T (p.Arg49Ter)

Genes:

RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.2

Genomic location:

• Chr13: 48412279 (on Assembly GRCh38)
• Chr13: 48986415 (on Assembly GRCh37)

Preferred name:

NM_001162498.3(LPAR6):c.145C>T (p.Arg49Ter)

HGVS:

• NC_000013.11:g.48412279G>A
• NG_009009.1:g.113533G>A
• NG_012874.2:g.37390C>T
• NM_000321.3:c.1695+30836G>AMANE SELECT
• NM_001162497.3:c.145C>T
• NM_001162498.3:c.145C>TMANE SELECT
• NM_001377316.2:c.145C>T
• NM_001377317.2:c.145C>T
• NM_001407165.1:c.1695+30836G>A
• NM_005767.7:c.145C>T
• NP_001155969.1:p.Arg49Ter
• NP_001155970.1:p.Arg49Ter
• NP_001364245.1:p.Arg49Ter
• NP_001364246.1:p.Arg49Ter
• NP_005758.2:p.Arg49Ter
• LRG_517:g.113533G>A
• NC_000013.10:g.48986415G>A
• NG_012874.1:g.37426C>T
• NM_005767.5:c.145C>T

This HGVS expression did not pass validation

Protein change:

R49*

Molecular consequence:

• NM_000321.3:c.1695+30836G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001407165.1:c.1695+30836G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001162497.3:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001162498.3:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001377316.2:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001377317.2:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_005767.7:c.145C>T - nonsense - [Sequence Ontology: SO:0001587]