ClinVar

NM_007078.3(LDB3):c.1506G>A (p.Pro502=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86716601 (on Assembly GRCh38)
• Chr10: 88476358 (on Assembly GRCh37)

Preferred name:

NM_007078.3(LDB3):c.1506G>A (p.Pro502=)

HGVS:

• NC_000010.11:g.86716601G>A
• NG_008876.1:g.53038G>A
• NM_001080114.2:c.1176G>A
• NM_001080116.1:c.*17227G>A
• NM_001171610.2:c.1521G>A
• NM_001368064.1:c.1317G>A
• NM_001368065.1:c.1317G>A
• NM_001368066.1:c.1365G>A
• NM_007078.3:c.1506G>AMANE SELECT
• NP_001073583.1:p.Pro392=
• NP_001165081.1:p.Pro507=
• NP_001354993.1:p.Pro439=
• NP_001354994.1:p.Pro439=
• NP_001354995.1:p.Pro455=
• NP_009009.1:p.Pro502=
• LRG_385t1:c.1506G>A
• LRG_385t2:c.*17227G>A
• LRG_385:g.53038G>A
• NC_000010.10:g.88476358G>A
• NM_007078.2:c.1506G>A
• c.1506G>A
• p.Pro502Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs45579241

NCBI 1000 Genomes Browser:

rs45579241

Molecular consequence:

• NM_001080116.1:c.*17227G>A - genic downstream transcript variant - [Sequence Ontology: SO:0002152]
• NM_001080114.2:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171610.2:c.1521G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368064.1:c.1317G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368065.1:c.1317G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368066.1:c.1365G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007078.3:c.1506G>A - synonymous variant - [Sequence Ontology: SO:0001819]