ClinVar

NM_007078.3(LDB3):c.1460G>A (p.Arg487His)

Gene:

LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86716555 (on Assembly GRCh38)
• Chr10: 88476312 (on Assembly GRCh37)

Preferred name:

NM_007078.3(LDB3):c.1460G>A (p.Arg487His)

Other names:

p.R487H:CGT>CAT

HGVS:

• NC_000010.11:g.86716555G>A
• NG_008876.1:g.52992G>A
• NM_001080114.2:c.1130G>A
• NM_001080116.1:c.*17181G>A
• NM_001171610.2:c.1475G>A
• NM_001368064.1:c.1271G>A
• NM_001368065.1:c.1271G>A
• NM_001368066.1:c.1319G>A
• NM_007078.3:c.1460G>AMANE SELECT
• NP_001073583.1:p.Arg377His
• NP_001165081.1:p.Arg492His
• NP_001354993.1:p.Arg424His
• NP_001354994.1:p.Arg424His
• NP_001354995.1:p.Arg440His
• NP_009009.1:p.Arg487His
• NP_009009.1:p.Arg487His
• LRG_385t1:c.1460G>A
• LRG_385t2:c.*17181G>A
• LRG_385:g.52992G>A
• LRG_385p1:p.Arg487His
• NC_000010.10:g.88476312G>A
• NM_001080114.1:c.1130G>A
• NM_001171611.1:c.*17181G>A
• NM_007078.2:c.1460G>A
• NM_007078.3:c.1460G>A
• c.1460G>A

This HGVS expression did not pass validation

Protein change:

R377H

Links:

dbSNP: rs146265188

NCBI 1000 Genomes Browser:

rs146265188

Molecular consequence:

• NM_001080116.1:c.*17181G>A - genic downstream transcript variant - [Sequence Ontology: SO:0002152]
• NM_001080114.2:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171610.2:c.1475G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368064.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368065.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368066.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007078.3:c.1460G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1