ClinVar

NM_007078.3(LDB3):c.1475C>A (p.Thr492Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86716570 (on Assembly GRCh38)
• Chr10: 88476327 (on Assembly GRCh37)

Preferred name:

NM_007078.3(LDB3):c.1475C>A (p.Thr492Lys)

HGVS:

• NC_000010.11:g.86716570C>A
• NG_008876.1:g.53007C>A
• NM_001080114.2:c.1145C>A
• NM_001171610.2:c.1490C>A
• NM_001368064.1:c.1286C>A
• NM_001368065.1:c.1286C>A
• NM_001368066.1:c.1334C>A
• NM_007078.3:c.1475C>AMANE SELECT
• NP_001073583.1:p.Thr382Lys
• NP_001165081.1:p.Thr497Lys
• NP_001354993.1:p.Thr429Lys
• NP_001354994.1:p.Thr429Lys
• NP_001354995.1:p.Thr445Lys
• NP_009009.1:p.Thr492Lys
• NP_009009.1:p.Thr492Lys
• LRG_385t1:c.1475C>A
• LRG_385:g.53007C>A
• LRG_385p1:p.Thr492Lys
• NC_000010.10:g.88476327C>A
• NM_007078.2:c.1475C>A

This HGVS expression did not pass validation

Protein change:

T382K

Molecular consequence:

• NM_001080114.2:c.1145C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171610.2:c.1490C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368064.1:c.1286C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368065.1:c.1286C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368066.1:c.1334C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007078.3:c.1475C>A - missense variant - [Sequence Ontology: SO:0001583]