ClinVar

NM_007078.3(LDB3):c.1606G>A (p.Val536Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86716701 (on Assembly GRCh38)
• Chr10: 88476458 (on Assembly GRCh37)

Preferred name:

NM_007078.3(LDB3):c.1606G>A (p.Val536Ile)

HGVS:

• NC_000010.11:g.86716701G>A
• NG_008876.1:g.53138G>A
• NM_001080114.2:c.1276G>A
• NM_001171610.2:c.1621G>A
• NM_001368064.1:c.1417G>A
• NM_001368065.1:c.1417G>A
• NM_001368066.1:c.1465G>A
• NM_007078.3:c.1606G>AMANE SELECT
• NP_001073583.1:p.Val426Ile
• NP_001165081.1:p.Val541Ile
• NP_001354993.1:p.Val473Ile
• NP_001354994.1:p.Val473Ile
• NP_001354995.1:p.Val489Ile
• NP_009009.1:p.Val536Ile
• LRG_385t1:c.1606G>A
• LRG_385:g.53138G>A
• NC_000010.10:g.88476458G>A
• NM_007078.2:c.1606G>A

This HGVS expression did not pass validation

Protein change:

V426I

Links:

dbSNP: rs113817827

NCBI 1000 Genomes Browser:

rs113817827

Molecular consequence:

• NM_001080114.2:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171610.2:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368064.1:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368065.1:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368066.1:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007078.3:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]