ClinVar

NM_007078.3(LDB3):c.1572G>A (p.Ala524=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

• Chr10: 86716667 (on Assembly GRCh38)
• Chr10: 88476424 (on Assembly GRCh37)

Preferred name:

NM_007078.3(LDB3):c.1572G>A (p.Ala524=)

HGVS:

• NC_000010.11:g.86716667G>A
• NG_008876.1:g.53104G>A
• NM_001080114.2:c.1242G>A
• NM_001080116.1:c.*17293G>A
• NM_001171610.2:c.1587G>A
• NM_001368064.1:c.1383G>A
• NM_001368065.1:c.1383G>A
• NM_001368066.1:c.1431G>A
• NM_007078.3:c.1572G>AMANE SELECT
• NP_001073583.1:p.Ala414=
• NP_001165081.1:p.Ala529=
• NP_001354993.1:p.Ala461=
• NP_001354994.1:p.Ala461=
• NP_001354995.1:p.Ala477=
• NP_009009.1:p.Ala524=
• LRG_385t1:c.1572G>A
• LRG_385t2:c.*17293G>A
• LRG_385:g.53104G>A
• NC_000010.10:g.88476424G>A
• NM_007078.2:c.1572G>A
• c.1572G>A
• p.Ala524Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs149423035

NCBI 1000 Genomes Browser:

rs149423035

Molecular consequence:

• NM_001080116.1:c.*17293G>A - genic downstream transcript variant - [Sequence Ontology: SO:0002152]
• NM_001080114.2:c.1242G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171610.2:c.1587G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368064.1:c.1383G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368065.1:c.1383G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368066.1:c.1431G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007078.3:c.1572G>A - synonymous variant - [Sequence Ontology: SO:0001819]