ClinVar

NM_007078.3(LDB3):c.1546C>T (p.Arg516Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86716641 (on Assembly GRCh38)
• Chr10: 88476398 (on Assembly GRCh37)

Preferred name:

NM_007078.3(LDB3):c.1546C>T (p.Arg516Trp)

HGVS:

• NC_000010.11:g.86716641C>T
• NG_008876.1:g.53078C>T
• NM_001080114.2:c.1216C>T
• NM_001171610.2:c.1561C>T
• NM_001368064.1:c.1357C>T
• NM_001368065.1:c.1357C>T
• NM_001368066.1:c.1405C>T
• NM_007078.3:c.1546C>TMANE SELECT
• NP_001073583.1:p.Arg406Trp
• NP_001165081.1:p.Arg521Trp
• NP_001354993.1:p.Arg453Trp
• NP_001354994.1:p.Arg453Trp
• NP_001354995.1:p.Arg469Trp
• NP_009009.1:p.Arg516Trp
• LRG_385t1:c.1546C>T
• LRG_385:g.53078C>T
• NC_000010.10:g.88476398C>T
• NM_007078.2:c.1546C>T

This HGVS expression did not pass validation

Protein change:

R406W

Links:

dbSNP: rs773327911

NCBI 1000 Genomes Browser:

rs773327911

Molecular consequence:

• NM_001080114.2:c.1216C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171610.2:c.1561C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368064.1:c.1357C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368065.1:c.1357C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368066.1:c.1405C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007078.3:c.1546C>T - missense variant - [Sequence Ontology: SO:0001583]