ClinVar

NM_007078.3(LDB3):c.1521C>T (p.Thr507=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86716616 (on Assembly GRCh38)
• Chr10: 88476373 (on Assembly GRCh37)

Preferred name:

NM_007078.3(LDB3):c.1521C>T (p.Thr507=)

HGVS:

• NC_000010.11:g.86716616C>T
• NG_008876.1:g.53053C>T
• NM_001080114.2:c.1191C>T
• NM_001171610.2:c.1536C>T
• NM_001368064.1:c.1332C>T
• NM_001368065.1:c.1332C>T
• NM_001368066.1:c.1380C>T
• NM_007078.3:c.1521C>TMANE SELECT
• NP_001073583.1:p.Thr397=
• NP_001165081.1:p.Thr512=
• NP_001354993.1:p.Thr444=
• NP_001354994.1:p.Thr444=
• NP_001354995.1:p.Thr460=
• NP_009009.1:p.Thr507=
• LRG_385t1:c.1521C>T
• LRG_385:g.53053C>T
• NC_000010.10:g.88476373C>T
• NM_007078.2:c.1521C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200838004

NCBI 1000 Genomes Browser:

rs200838004

Molecular consequence:

• NM_001080114.2:c.1191C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171610.2:c.1536C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368064.1:c.1332C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368065.1:c.1332C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368066.1:c.1380C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007078.3:c.1521C>T - synonymous variant - [Sequence Ontology: SO:0001819]